About the Director

Curriculum Vitae

Paul Albert Sieving, M.D., Ph.D.

Director, National Eye Institute, National Institutes of Health
Member, Institute of Medicine, The National Academies

Education

Valparaiso University, 1966-1970, Physics and History, B.A. with Highest Distinction
Yale University Graduate School, 1970-1973, Physics, M.S.
Yale Law School, 1973-1974; J.D. degree program; Leave of absence taken 1974.
University of Illinois Medical School, 1974-1978, M.D.
University of Illinois Graduate School, 1976-1981, Biomedical Engineering, Ph.D.

Postdoctoral and Fellowship Training

Medical Intern: University of Illinois Hospital. 1978-1979.
Residency in Ophthalmology, University of Illinois Eye and Ear Infirmary, Chicago. 1979-1982.
Postdoctoral Fellowship in Retinal Physiology; Roy H. Steinberg, M.D., Ph.D., Professor of Physiology, University of California, San Francisco. 1982-1984.
Medical Fellowship in Inherited Retinal Degenerations; Eliot L. Berson, M.D., Professor of Ophthalmology,
Berman-Gund Laboratory for Retinal Degenerations, Harvard Medical School, 1984-1985.

Academic Appointments

Assistant in Ophthalmology, Illinois Eye & Ear Infirmary, University of Illinois, Chicago. 1979-1982.
Visiting Assistant Research Ophthalmologist, University of California, San Francisco. 1982-1984.
Fellow in Ophthalmology, Harvard Medical School, Massachusetts Eye & Ear Infirmary. 1984-1985.
University of Michigan 1985-2001.
Department of Ophthalmology, Asst. Prof. 1985-1989; Assoc. Prof. 1989-1994; Professor, 1994-2001.
Paul R. Lichter Professor of Ophthalmic Genetics, 1990-2001; (Leave of absence, 2001- ).
Rackham Graduate School, Faculty, Neuroscience Program 1985-2001; Bioengineering, 1985-2001;
Founding Director, Center for Retinal and Macular Degenerations, 1990-2001.
Center for Biomedical Engineering Research (CBER), 1997-2001.
Founding Director, Ophthalmic Molecular Diagnostics Laboratory, CLIA Certified, 1999-2001.

Current Positions

Director, National Eye Institute, National Institutes of Health; Bethesda, Maryland; 2001 -.
Tenured Senior Investigator, NIH Intramural Research Program; Bethesda, Maryland; 2001 -.

Licensure

National Board of Medical Examiners, Diplomat, 1978.
American Board of Ophthalmology, Diplomat, 1983.
Medical Licenses: Illinois, 1978; California, 1982; Massachusetts, 1984; Michigan, 1985.

Awards and Honors

Graduated "With Highest Distinction", Valparaiso University, 1970.
Yale University. Graduate School Fellowship, 1970-1973. Law School Fellowship, 1973.
University of Illinois Medical School, James Scholar, 1974-78; Leon F. Moldavsky Physiology Award, 1977;
College of Medicine Research Award, 1978; Sigma Xi, 1980.
Fight-for-Sight Research Grant Award, 1980-1982.
Career Development Award, National Retinitis Pigmentosa Foundation, 1982-1985.
Olga Keith Wiess Scholar, Research To Prevent Blindness, Inc., 1989.
Distinguished Alumnus, Valparaiso University, 1991.
American Ophthalmological Society, Member, 1993. Thesis required for membership.
Research to Prevent Blindness Senior Scientific Investigator Award, 1998.
Alcon Award, Alcon Research Institute, 2000. (five awards per year worldwide)
The Best Doctors in America, 1996-97 (Midwest); 1998; 2001; 2005.
Who's Who in America, 2003-2009; Who's Who in Medicine and Healthcare, 2002-2007; Who's Who in Science and Engineering, 2005-2007; Who's Who in the East, 2006-2008.
Academia Ophthalmologica Internationalis, elected 2004. (60 elected "chairs" worldwide)
Pisart Vision Award, Lighthouse International for the Blind, New York, 2005. (one award per year worldwide)
The Retina Society, Associate Member, elected 2005.
American Academy of Ophthalmology, Achievement Award, 2005.
Institute of Medicine of the National Academies, elected 2006.
Health Care Leadership Award, American Optometric Association. 2007.
Departmental and Committee Service (at the University Michigan, through 2001)
MSTP Program Mentor, University of Michigan 1985 - 2001.
Preparation of Ophthalmology Department NEI/NIH CORE Grant for Vision (successful funding), 1985.
Director, Vivarium Module, NIH/NEI Vision Core Grant, 1986-92.
Chair, Faculty Recruitment and Promotions Committee, Ophthalmology Department, 1987 - 2001.
Ophthalmology Department Internal Review Committee, Dean's Periodic Review, 1987.
Executive Committee, Ophthalmology Department, 1989-92.
Director, NIH Vision Training Grant, University of Michigan, 1989-92.
Examiner, UM Medical School Comprehensive Clinical Assessment, 1992-93.
Speaker, University of Michigan Medical School Alumni Meeting, Phoenix, AZ. March, 1993.
Ophthalmology Department Internal Review Committee, Dean's Periodic Review, 1994.
Faculty search committee: Dept. Biomedical Engineering position in applied laser engineering, 1997.
Searle Selection Committee, UM Medical School, 1999.
Burroughs Wellcome Fund Clinical Scientist Awards selection committee, UM Medical School, 1999.
Advisory Council on Clinical Research (ACCR), UM Medical School, 1997-2000.

NIH Leadership, Committees and Other Service

Electronic Research Administration (eRA) oversight committee. Chair. 2002-03.
NIH Central Compensation Committee, member. 2002 - Nov. 2004.
Search committee for Director of NIMH. Member. 2002.
Search committee for Director of Center for Scientific Review (CSR). Co-Chair. 2003-04.
Roadmap Structural Biology Working Group. 2003-continuing.
Nanotechnology/Nanomedicine Working Group. Co-chair. 2003.
NanoMedicine Roadmap Initiative. Co-Chair. 2003-continuing.
RICC Roadmap Implementation Coordination Committee. 2003-continuing.
Search committee for director of NIEHS. Member. Spring, 2004.
Neuroscience Blueprint - NIH Directors' development committee. 2004-continuing.
NIH Management and Budget Working Group. Member. Nov. 2004-May, 2006.
NIH Intramural Working Group. Co-Chair. May 2006-continuing.
NIH Steering Committee, 2006 - present.

Advisory Boards

NIH/NEI review and study sections:
Visual Sciences C, 1990-93; Visual Sciences A2, ad hoc 1986-89; Special Reviewers Reserve, 1993-98.
Program Panel: Research Strategies for Age-Related Macular Degeneration, 1988.
Co-Chair, Retinal Diseases Section, Vision Research: A National Plan, 1999-2003.
VA Research Study Section (Vision), Washington, D.C., November 1987.
Fight-For-Sight, Grants-in-Aid Review Panel, 1988-91.
Foundation Fighting Blindness, Scientific Advisory Board, 1989-01; Vice-Chair Clinical Research, 1995-2001.
Editorial Boards: Experimental Eye Research, 1997-2001; Vision Research, 1992-2000.
Bressler Award Committee, Jewish Guild for the Blind, New York City, 2002-current.
Champalimaud Foundation, Award Committee, Lisbon, Portugal, 2006-current.

Memberships

Association for Research in Vision and Ophthalmology (ARVO), 1977-. International Society for Clinical Electrophysiology of Vision, 1978- ; Treasurer, 1986-94. American Association for the Advancement of Science, 1980-. American Academy of Ophthalmology, 1980-current. American Society for Neuroscience, 1988-current. American Society of Human Genetics, 1989-current. American Ophthalmological Society, 1993-current. Academia Ophthalmologica Internationalis, 2004-current. The Retina Society, Associate Member, 2005-current. Institute of Medicine of the National Academies, 2006-current.

Grant and Program Support:

University of Michigan. Continuous support as Principal Investigator, 1986-2001. Inner Retinal Contributions to the ERG.
NIH RO1-EY06094. 1986-2003; 1998-2003, TDC: $986,224. (PI: P.A. Sieving.) Transferred to Bret Hughes, 6/2001.

Retinoschisis: Genetic Linkage and Positional Cloning.
NIH RO1-EY10259. 1993-2000; 1996-2000, TDC: $753,000. (PI: P.A. Sieving.)

Michigan Retinal and Macular Degeneration Center. The Foundation Fighting Blindness. Hunt Valley, MD.
1988-2005; 2000-2005, TDC: $2,297,298. (PI: P.A. Sieving.) Transferred to Anand Swaroop, 6/2001.

Medical Therapy for Retinal and Macular Degenerative Disease. The Foundation Fighting Blindness, Hunt Valley, MD.
1998-2001, TDC: $625,000 (PI: P.A. Sieving.)

RPB Senior Scientific Investigator Award, 1998. P.A. Sieving.
Research to Prevent Blindness. $50,000.

Genomic Technology and Genetic Disease. NIH Human Genome Project.
P.A. Sieving, pilot project leader. 1990-95. (PI: F.S. Collins.)

Core Grant for Vision Research. NIH 1P30 EY07003.
P.A. Sieving, Module Director. 1987-92, TDC: $740,000. (PI: P.R. Lichter.)

Michigan Vision Research Training Grant. NIH T32 EY07022.
1989-92, TDC: $110,000. (PI: P.A. Sieving.)

Olga Keith Weiss Scholar, 1989. P.A. Sieving. Research to Prevent Blindness. $30,000.

Studies of Inherited Retinal Degenerations. Michigan Eye Bank and Transplantation Center.
1986-88, TDC: $20,600. (PI: P.A. Sieving.)

Molecular Genetics of Retinal Dystrophies. The Foundation Fighting Blindness, Hunt Valley, MD.
1989-91, TDC: $300,000. (PI: P.A. Sieving.)

Career Development Award. P.A. Sieving.
National Retinitis Pigmentosa Foundation, Baltimore, MD. 1982-85. $120,000.

Principal Investigator, Section on Translational Research for Retinal and Macular Degeneration. NIH Intramural Research Program.

Human Protocol NIH 03-EI-0033. "X-Linked Juvenile Retinoschisis - Clinical and Molecular Studies."
(PI: P.A. Sieving. 2003)

Human Protocol NIH 03-EI-0179. "Investigation of the Effect of Dietary Docosahexaenoic Acid (DHA) Supplementation on Macular Function in Subjects with Autosomal Dominant Stargardt-Like and Autosomal Recessive Stargardt Macular Dystrophy." (PI: P.A. Sieving. 2003)

Human Protocol NIH 03-EI-0234. "A Phase I Study of NT-501-10 and NT-501-6A.02, Implants of Encapsulated Human NTC-210 Cells Releasing Ciliary Neurotrophic Factor (CNTF), in Patients with Retinitis Pigmentosa." (PI: P.A. Sieving. 2003)

Human Protocol NIH 03-EI-0255. "Pilot Study on the Effect of Vitamin A Supplementation on Cone Function in Retinitis Pigmentosa (RP)." (PI: P.A. Sieving. 2003)

Human Protocol 06-EI-0071. "A Phase 2 Study of Implants of Encapsulated Human NTC-201 Cells Releasing Ciliary Neurotrophic Factor (CNTF), in Participants with Visual Acuity Impairment Associated with Atrophic Macular Degeneration." (PI: P.A. Sieving. 2006)

Laboratory Section Protocol NIH Z01 DC000065-0. "Retinal Degeneration: Genetic and Environmental Animal Models." (PI: P.A. Sieving. 2002)

Post-doctoral Fellows

Kenji Wakabayashi, MD. 1986-88. Assistant Professor of Ophthalmology, Kanazawa University, Japan.
Subsequent position: Private practice of ophthalmology, Kanazawa, Japan.
Franklin Naarendorp, PhD. 1987-92.
Subsequent position: Associate Professor of Psychology, Northeastern University, Boston.
Lian Shentu, PhD. 1988-89.
Subsequent position: Research Scientist, Peripheral Dynamics, Inc., Plymouth Meeting, PA.
Koichiro Murayama, MD. 1989-91.
Subsequent position: Professor of Ophthalmology, Saitama Medical School, Saitama, Japan.
Zhengping Zhuang, MD, PhD. 1992-93. Molecular Genetics Postdoctoral Fellow.
Subsequent position: National Cancer Institute/NIH, Bethesda, MD.
Ronald Bush, PhD. 1991-94. Retinal Physiology Postdoctoral Fellow.
Subsequent positions: Assistant Research Scientist, Dept. of Ophthalmology, University of Michigan.
Staff Scientist, Section on Translational Research for Retinal and Macular Degeneration, National Institute on Deafness and Other Communication Disorders/NIH, Bethesda, MD.
John Sullivan, MD, PhD. 1992-94. Clinical Research Fellow.
Subsequent position: Assistant Professor of Ophthalmology & Cell Biology, SUNY Syracuse, N.Y.
Hemant Pawar, PhD. 1993-95. Molecular Genetics Postdoctoral Fellow.
Subsequent position: Research Investigator, Ophthalmology, Washington University Medical School.
Michael Fowler, PhD. 1993-96. Molecular Genetics Postdoctoral Fellow.
Subsequent position: Research Assistant Professor, University of Rochester, N.Y.
Kelaginamane T. Hiriyanna, PhD. 1994-96. Molecular Genetics Postdoctoral Fellow.
Subsequent position: Research Investigator, Dept. of Ophthalmology, University of Michigan.
Kazushige Toda, MD. 1996-98. Retinal Physiology Fellow.
Subsequent position: Jikei University Medical School, Tokyo, Japan.
Yumiko Toda, MD. 1996-98. Fellow in Clinical Retinal Dystrophies.
Subsequent position: Jikei University Medical School, Tokyo, Japan.
Takeshi Sugawara, MD, PhD. 1996-98. Retinal Physiology Fellow.
Subsequent position: Assistant Professor of Ophthalmology, Iwate Medical School; Morioka, Japan.
Christine McHenry, PhD. 1996-99. Molecular Genetics Postdoctoral Fellow.
Subsequent position: Research Associate, Ophthalmology and Vis Sci, Univ. Michigan, Ann Arbor, MI.
Bo Lei, MD, PhD. 1997-2001. Retinal Physiology Fellow.
Subsequent position: Assistant Professor of Ophthalmology, Univ Missouri; Columbia, Mo.
Shigeki Machida, MD, PhD, 1998-2000. Retinal Physiology Fellow.
Subsequent position: Assistant Professor of Ophthalmology, Iwate Medical School; Morioka, Japan.
Mineo Kondo, MD, PhD, 1999-2001. Retinal Physiology Fellow.
Subsequent position: Associate Professor of Ophthalmology, Univ. Nagoya Medical School; Nagoya, Japan.
Yuichiro Takada, MD, PhD, 2000-2005. Retinal Physiology Fellow.
Atsuhiro Tanikawa, MD, PhD, 2001-2003. Retinal Physiology Fellow.
Subsequent position: Univ. Nagoya Medical School; Nagoya, Japan.
Dorit Raz, DVM. 2003-2006. Retinal Physiology Fellow.
Sten Kjellstrom, MD. 2003-2006. Retinal Physiology Fellow.
Masatoshi Haruta, MD, PhD. 2005-2008. Retinal Physiology Fellow

Graduate Students
William Lemon. Bioengineering. University of Michigan. M.S., 1987.
Andrew Geller. Psychology. University of Michigan. Ph.D., 1992.
Jeffrey Jamison. Bioengineering. University of Michigan. Ph.D., 2003.
Joshua Fernandes. Medicine. George Washington University School of Medicine and Health Sciences. M.D.

Personal Research Areas:

Genetic analysis and therapy development for human retinal and macular dystrophies.
Retinal electrophysiology and origins of the electroretinogram response.

I am a neurophysiologist and study the pathophysiology of genetically inherited human hereditary retinal and macular dystrophies. I also work in the field of retinal electrophysiology and neurophysiology in rodents and in non-human and human primate. The impetus for my work comes through clinical studies of human genetic retinal disorders, evaluated using non-invasive visual psychophysics and electroretinogram (ERG) recordings. The dystrophies we have studied thus far have a Mendelian genetic basis, and I incorporate genetic studies of these conditions. I have been fortunate to be involved in cloning of novel genes and in characterizing novel human phenotypes. In some cases we have replicated the dysfunction found in human phenotypes through intravitreal application of glutamate analogues in the intact monkey eye to suppress function of particular neural channels in the non-human primate retina. This latter approach has been quite successful in teasing apart the complex origins of the primate electroretinogram response.

1.) I study human genetic retinal neurodegeneration and rodent models of these conditions. We currently are studying rhodopsin mutant rodent models that we engineered and that we acquired from other laboratories. These represent a spectrum of disease mechanisms. As one example of novel information that has come from this approach, I uncovered an extensive family with autosomal dominant night-blindness but without apparent retinal degeneration. We subsequently identified a rhodopsin G90D mutation in this family, and we proposed that the night-blindness resulted from thermal instability, or constitutive activity, of rhodopsin leading to increased "dark-light noise" that desensitizes the photoreceptor cell, independent of environmental light and separate from overt rod cell degeneration. This would be one of the very few extant examples of a constitutively active G-protein coupled receptor (i.e. opsin) causing a disease state. To test the hypothesis of constitutive activity, we created a rhodopsin G90D transgenic mouse and crossed this onto a rhodopsin null background. Analysis of these G90D rodents provided solid in vivo evidence of this mechanism. We are now using these rhodopsin mutant rodent models, along with the RCS rat and the photoreceptor light damaged rat, to study pharmacologic factors that may convey neuroprotection to retinal neurons.

Sieving PA, Richards JE, Naarendorp F, Bingham EL, Scott K, Alpern M. Dark-light: Model for nightblindness from the human rhodopsin Gly90 -->Asp mutation. Proc Natl Acad Sci USA 92:880-884 (1995).

Sieving PA, Fowler ML, Bush RA, Machida S, Calvert PD, Green DG, Makino C, McHenry C. Constitutive "light" adaptation in rods from G90D rhodopsin: A mechanism for human congenital nightblindness without rod cell loss. J Neurosci 21:5449-5460 (2001).

Dizhoor AM, Woodruff ML, Olshevskaya EV, Cilluffo MC, Cornwall MC, Sieving PA, Fain GL. Night blindness and the mechanism of constitutive signaling of mutant G90D rhodopsin. J Neurosci 28(45):11662-72 (2008).

2.) We are looking at retinal diseases that result from abnormal vitamin A processing in the retinal pigment epithelium (RPE) which lies immediately adjacent to the photoreceptors. In parallel studies, we found that 13-cis-retinoic acid (Accutane) applied in vivo blocks the 11-cis-retinal dehydrogenase (RDH5) enzyme that is a final metabolic step in reconverting bleached retinoid to 11-cis-retinal in the RPE. We showed that blocking RDH5 with 13-cis-retinoic acid conveyed significant protection against acute light damage injury to photoreceptors, indicating that it is possible to target the retinoid cycling within the RPE by exogenous agents and thereby protect photoreceptors. We hypothesized that this may have application to conditions in which accumulation of A2E/lipofuscin is associated with RPE cell death, as in Stargardt's diseases and in some forms of age-related macular degeneration. Studies to test this idea are underway.

Sieving PA, Chaudhry P, Kondo M, Provenzano M, Wu D, Carlson TJ, Bush RA, Thompson DA. Inhibition of the visual cycle in vivo by 13-cis retinoic acid protects from light damage and provides a mechanism for night-blindness in isotretinoin therapy. Proc Natl Acad Sci (USA) 98:1835-1840 (2001).

Radu RA, Mata NL, Nusinowitz S, Liu X, Sieving PA, Travis GH. Treatment with isotretinoin inhibits lipofuscin accumulation in a mouse model of recessive Stargardt's macular degeneration. Proc Natl Acad Sci (USA) 100: 4742-4747 (2003).

3.) Human juvenile X-linked retinoschisis (XLRS) has occupied a considerable portion of my attention over the past decade. We pursued mapping and cloning of the XLRS gene as part of the European RS Consortium for this effort. The typical course of human XLRS disease causes reduced acuity in childhood and loss of inner retinal ERG signaling prior to the delamination of the neural retina layers which ultimately destroys the retinal integrity. XLRS may well afford a good target for human gene therapy. Since the XLRS1 protein is extracellular, delivery may prove less complicated than for other retinal dystrophies that involve integral cellular membrane proteins, such as in the photoreceptors. We have generated a transgenic mouse model of XLRS and have treated this successfully to restore retinal function by AAV gene transfer. We are now preparing to design a human clinical trial to explore safety and efficacy of gene transfer therapy.

The Retinoschisis Consortium (Group 3: Hiriyanna KT, Bingham EL, McHenry C, Pawar H, Coats C, Darga T, Richards JE, Sieving PA). Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS). Hum Mol Genet 7:1185-1192 (1998).

Takada Y, Fariss RN, Tanikawa A, Zeng Y, Carper D, Bush R, Sieving PA. A retinal neuronal "developmental wave" of retinoschisin expression begins in ganglion cells during layer formation. Invest Ophthalmol Vis Sci. 45:3302-12 (2004).

Zeng Y, Takada Y, Kjellstrom S, Hiriyanna K, Tanikawa A, Wawrousek E, Smaoui N, Caruso R, Bush RA, Sieving PA. RS-1 gene delivery to an adult Rs1h knockout mouse model restores ERG b-wave with reversal of the electronegative waveform of X-linked retinoschisis. Invest Ophthalmol Vis Sci. 45: 3279-3285 (2004).

Kjellstrom S, Bush RA, Zeng Y, Takada Y, Sieving PA. Retinoschisin gene therapy and natural history in the Rs1h-KO mouse: Long-term rescue from retinal degeneration. Invest Ophthalmol Vis Sci 48:3837-45 (2007).

Takada Y, Vijayasarathy C, Zeng Y, Kjellstrom S, Bush RA, Sieving PA. Synaptic pathology in retinoschisis knockout (Rs1-/y) mouse retina and modification by rAAV-Rs1 gene delivery. Invest Ophthalmol Vis Sci 49(8):3677-86 (2008).

The Center for Retinal and Macular Degenerations, W.K. Kellogg Eye Center, University of Michigan Paul A. Sieving, M.D., Ph.D., Founding Director. 1990 - 2001.

In 1990 I initiated the Center for Retinal and Macular Degenerations at the University of Michigan to facilitate investigations into causes and treatments for human inherited retinal dystrophies. Development of the Center was championed by Paul R. Lichter, MD, Chair of the Department of Ophthalmology and Visual Science. Support came from the Department of Ophthalmology and from the Medical School, with additional funding from private and foundation philanthropy. By 2001 the Center housed four laboratories and a clinical studies unit occupying approximately 5,000 sqft in the W. K. Kellogg Eye Center. Additional participating faculty had laboratory space within the Eye Center and the University. Human clinical phenotype studies were conducted in adjacent medical space. Investigators were supported in the main by NIH individual R01 grants, with additional and important support through endowment funds allocated to the Center.

The Center emphasized cross-disciplinary studies of retinal function and disease mechanisms in human patients and rodent disease models. Areas of study included molecular genetics, retinal cell and molecular biology, neurophysiology, and histopathology of natural and engineered animal models of retinal degeneration. Human disease phenotypes were investigated by clinical observation, visual psychophysics and retinal electrophysiology. Considerable effort was focused on elucidating the cellular origins of electroretinogram (ERG) components in non-human primates, to facilitate interpretation of aberrant responses encountered in human retinal dystrophies.

The Center was designed around an integrated approach to clinical and basic questions. Patients with retinal and macular dystrophies were examined on both fee-for-service and research bases, and genetic samples were collected for mapping, cloning and mutation screening. Two transgenic mouse models were engineered by Center scientists as disease specific homologs of human conditions. Pharmacologic treatment strategies were a particular focus, with the ultimate aim of evaluating promising leads in human treatment trials.

The following work was conducted as an investigator within the Center:

• Identified a novel mechanism of night-blindness that results from constitutive activation of rhodopsin from a human G90D mutation. This constitutive activity causes an instability in binding the 11-cis-retinal chromophore and initiates the phototransduction cascade inappropriately.
• The first identification of a contribution of hyperpolarizing bipolar cells to the primate ERG, and demonstrated signaling abnormalities of the retinal On- and Off-pathways in human rod and cone degenerations.
• Created a G90D rhodopsin transgenic/null-background mouse model and demonstrated fidelity to the human night-blindness phenotype with no rod degeneration.
• Studied in the P23H rhodopsin transgenic rat a possible cellular mechanism contributing to rod degeneration in this gene class of disease.
• Established a CLIA-certified clinical molecular genotyping service for diagnosis and carrier identification.
• Genotyped 125 human families with juvenile X-linked retinoschisis (XLRS) and provided a hypothesis of genotype-phenotype correlation.
• Showed pharmacologic rescue of photoreceptor light-damage degeneration and the genetic RCS rat models using agents in the dopamine/melatonin pathway.
• Identified a pharmacological approach to interrupting retinoid cycling in the retinal pigment epithelium, with work underway to explore this as a treatment strategy to reduce accumulation of A2E/lipofuscin in the Stargardt knockout mouse.
• Performed phenotype and genetic mapping/mutation studies of rare human retinal dystrophies, including blue cone monochromacy causing macular degeneration, a non-TIMP3 form of autosomal dominant hemorrhagic macular dystrophy, and cone-rod homeobox (CRX) gene mutations causing Leber's congenital amaurosis and cone-rod dystrophy.
• Identified and mapped to chromosome 6q an autosomal dominant family with atrophic macular degeneration and participated in cloning the ELOVL4 gene responsible.
• Developed a retinoschisis XLRS1 gene knockout mouse model. The founder animals showed the characteristic ERG signature of b-wave loss but with preserved a-wave.We have now created a stable XLRS mouse line for study and have rescued the physiological deficit by gene transfer with an AAV vector.

University of Michigan, Course and Teaching Activities (through 2000)

Ophthalmology 804. "Introduction to Clinical Vision Science." Course director. Rackham Graduate School. 1986, 1988.
Physiology 733. "Introduction to Basic Vision Science." Rackham Graduate School. 1989, 1990.
Neuroscience 700. Organizer of student seminars in "Photoreceptor Contribution to the ERG." Rackham Graduate School. 1990.
UM Ophthalmology Department Outreach Program. "Inherited Retinal Dystrophies." Grand Rapids, MI. November, 1990.
UM Ophthalmology Department CME Course: Interpreting Fluorescein Angiograms in Retinal Vascular Diseases. "Central Retinal Vein Occlusion." April, 1991.
American Academy of Ophthalmology. Annual National Meeting. "Introduction to Ophthalmic Molecular Genetics." Course Organizer and Director. 1989, 1990, 1991.
UM Ophthalmology Spring Postgraduate Course: Lasers in Ophthalmology, Applications and New Developments. "The Role of Laser Therapy in Central Retinal Vein Occlusion." May, 1991.
UM Ophthalmology Department Outreach Program. "DNA Gene Mutations in Retinitis Pigmentosa." Midland Hospital, Midland, MI. February, 1992.
Kresge Eye Institute, Wayne State University. Clinical and Basic Lecture Series in Ophthalmology. "Retinal Physiology of Inherited Retinal Dystrophies." Detroit, MI. March, 1992.
UM Ophthalmology Department CME Course: Retina Update. "From Laboratory to Clinic: Impact of Molecular Diagnosis." March, 1993.
University of Michigan School of Public Health. "Toxicology and Retinal Disease." Toxicology Seminars 601. November, 1994.
UM Ophthalmology Department. Retina Update CME Course. "Molecular Genetics for the Ophthalmologist." April, 1995.
UM Ophthalmology Department. Retina CME Course. "Inherited Retinal Dystrophies / Vitamin A Therapy." April, 1996.
UM Ophthalmology Department. "1996 Harold F. Falls Symposium: The X-Chromosome and Retinal Disease." Symposium organizer with 13 invited speakers. Ann Arbor, MI. June, 1996.
University of Michigan Ophthalmology Department. Retina CME Course: "Molecular Diagnosis in the 21st Century." June, 1997.
UM Medical Center Health Night Out: "Macular Degeneration." Ann Arbor, MI, October, 1997.
UM Ophthalmology Residents: "Color Vision." January, 1998.
UM Ophthalmology Residents: "Hereditary Retinal Degenerations." January, 1998.
Henry Ford Hospital Resident Lecture Series: "Retinal Dystrophies and Physiology." March, 1998.
UM Ophthalmology Department Outreach Series. "Retinal and Macular Degeneration: New Genes and More Genes." Bay City, MI. March, 1998.
University of Chicago, Ophthalmology Department. "Transgenic Mouse Models of Retinal Degeneration." March, 1998.
Kresge Eye Institute, Wayne State University. Visiting Professor: "Genotypes, Phenotypes, and Physiology of Hereditary Retinal and Macular Dystrophies." Detroit, MI. March, 1998.
"Bioengineering approaches to retinal signaling." Lecture. Bioengineering 496. UM Rackham Graduate School. 1990, 1993, 1998.
"Graduate Student Independent Research." Supervising Faculty. Bioengineering 599. UM Rackham Graduate School. 1988, 1989, 1992, 1994, 1995, 1996, 1997, 1998, 1999.
UM Ophthalmology Residents: "Electrophysiology and Visual Psychophysics." January, 1999.
"Neuroscience Student Research." UM Rackham Graduate School. 1999.
"Graduate Student Research." Supervising Faculty. Bioengineering 990. UM Rackham Graduate School. 1999.
Kresge Eye Institute, Wayne State University. Clinical and Basic Lecture Series in Ophthalmology. "ERG, genetics and clinical RP." Detroit, MI. March, 2000.
Henry Ford Ophthalmology Visiting Professor. "Retinal and macular dystrophies." Detroit, MI. April, 2000.

Invited Seminars / Lectures

Oakland University Eye Institute. "Electrophysiological Studies of Human Retinal Dystrophies." Rochester, MI. October, 1987.
Japanese Ophthalmological Society, Annual Meeting. Keynote Speaker. "Electrophysiology of the Inner Retina: Diagnosis using new ERG components." Kyoto, Japan. March, 1988.
Kanazawa University Department of Ophthalmology. "Molecular Genetics of Juvenile Retinoschisis." Kanazawa, Japan. March, 1988.
Kaio University Vision Seminars. "Application of Molecular Genetics to Human Retinal Degeneration." Tokyo, Japan. March, 1988.
International Society for Clinical Electrophysiology of Vision (ISCEV), Annual Meeting. Keynote Lecture. "The Scotopic Threshold Response of the Electroretinogram." Lisbon, Portugal. June, 1988.
Illinois Eye and Ear Infirmary. "Contributions to the Electroretinogram from the Inner Retina of the Cat." Chicago, IL. April, 1989.
Kresge Eye Institute, Wayne State University, "Molecular Genetics of Retinal Dystrophies." Detroit, MI. December, 1989
American Academy of Optometry. Annual Meeting. Symposium on Physiological Optics. Symposium Invited Speaker. "Analysis of the Rod ERG." New Orleans, LA. December, 1989.
Color Vision Symposium Festschrift for Mathew Alpern. University of Michigan. Symposium Invited Speaker. "Scotopic Threshold Response: Monitoring rod vision in starlight by the ERG." May, 1990.
St. Joseph-Mercy Hospital Ophthalmology Meeting. "Molecular Genetics of Retinal Dystrophies." Ypsilanti, MI. July, 1991.
Michigan State University. Clinical Electrophysiology Symposium. Symposium Invited speaker. "ON- and OFF-pathway Activity in the Primate ERG." E. Lansing, MI. October, 1991.
Detroit Ophthalmological Society. "Tribute to Harold Falls: Ophthalmic molecular genetics." October, 1991.
Kresge Eye Institute, Wayne State University. Clinical and Basic Lecture in Ophthalmology. "Clinical Physiology of Inherited Retinal Dystrophies." Detroit, MI. March, 1992.
Temple University, Ophthalmology Department Grand Rounds. "Molecular Genetics of Inherited Macular Dystrophies." Philadelphia, PA. December, 1992.
University of Utah, Ophthalmology Department. "Molecular Genetics of Inherited Retinal Dystrophies." Salt Lake City, UT. April, 1993.
FASEB. The Biology and Chemistry of Vision. Session Organizer and Speaker. "Causes of Human Retinal Degeneration." Copper Mountain, CO. June, 1993.
Swiss Ophthalmic Research Club. Annual Meeting. Keynote Speaker. "Ophthalmic Molecular Genetics: Techniques, applications, and status." Leysin, Switzerland. March, 1994.
Ophthalmic Club of Toledo. "Molecular Genetics for the Ophthalmologist." Toledo, OH. March, 1995.
University of West Virginia. Ophthalmology Department, 16th Annual Conference. Keynote Speaker. "Genotypes, Phenotypes, and Physiology: Ophthalmic molecular genetics." Morgantown, WV. October, 1995.
Macula Workshop. "What Limits Vision in Photoreceptor Dystrophies Besides Quantum Catch Loss?" Bath, England. June, 1996.
International Society for Clinical Electrophysiology of Vision. Keynote Speaker. "Primate Photopic ERG: New concepts of response origins." Tubingen, Germany. July, 1996.
VII International Symposium on Retinal Degeneration. Invited Speaker. "Reinterpreting the Origins of Photopic ERG Components." Sendai, Japan. October, 1996.
University of Alabama. Loris and David Rich Lecture Series in Visual Sciences. "Retinal Neural Signaling of On- and Off-pathway Cells." Birmingham, AL. November, 1996.
The Association for Research in Vision and Ophthalmology 1997. Invited Speaker. Retinitis Pigmentosa Interest Group. "How Many Photoreceptors do We Need for Vision?" Ft. Lauderdale, FL. May, 1997.
Fernstrom Symposium 1997. Symposium Speaker. "Mouse Model of G90D Rhodopsin Night Blindness." Lund, Sweden. June, 1997.
Third Great Basin Visual Science Symposium. Symposium Speaker. "Night Blindness in Man and Mouse: The G90D rhodopsin mutation." Salt Lake City, UT. August, 1997.
OSA Annual Meeting and ILS-XIII: "The A-wave at Scotopic and Photopic Threshold: Rethinking the origins of the ERG." Long Beach, CA. August, 1997.
The University of Illinois at Chicago, Department of Ophthalmology and Visual Sciences and the UIC Eye Center Alumni Association. 1998 Peter C. Kronfeld Memorial Lecturer. "How Many Photoreceptors Do We Need for Vision?" June 1998.
Belgium Ophthalmological Society. "Genetics of Retinal Dystrophies." Brussels, Belgium. November 1998.
The Association for Research in Vision and Ophthalmology. Organizer and Speaker. "ARVO Basic and Clinical Science Lecture: Photoreceptors from a Clinical Point of View." May 9, 1999.
The Association for Research in Vision and Ophthalmology. Session Moderator. "Mutations Associated With Macular Disease." May 13, 1999.
FASEB: The Biology and Chemistry of Vision. "Dark adapted visual function and human retinal disease." Session Organizer and Moderator: "Photoreceptor Disease and Visual Thresholds." Copper Mountain, Colorado. June 13-18, 1999.
Institute of Ophthalmology. University College, London. "P23H Rhodopsin Mutation: Human RP and transgenic animal model." London, England. October 5, 1999.
University of Rochester, Neuroscience Seminar Series. "Retinitis Pigmentosa: Human disease and animal models." Rochester, NY. November, 1999.
Royal College of Ophthalmologists. Annual meeting. "American Experience with Ophthalmic Diagnostic Genetics Service." Invited Lecture. Harrogate, England. May 24, 2000.
European Concerted Action Meeting. Invited Speaker. "Therapy for Photoreceptor Disease by Manipulation of RPE Retinoid Pathway." Sintra, Portugal. July, 2000.
Scandinavian 30th Annual Ophthalmology and Vision Research Meeting. Plenary lecturer. "Animal Models of Retinal Degenerations" and "Diagnostic Molecular Genetics for Human Retinal Degenerations." Karlskrona, Sweden. September 1-3, 2000.
ISCEV-Japan. Annual meeting. Keynote Speaker. "Electrophysiology of Animal Models of Retinal Degeneration." Morioka, Japan. September, 2000.
University College, Institute of Ophthalmology. Vision Research Symposium. Davson Lecture. "Nightblindness and the State of Rod Cells in Retinitis Pigmentosa." London, England. 11/29/2001.
American Academy of Optometry Annual Meeting. Keynote Speaker. Philadelphia, Pennsylvania. 12/6/2001.
Columbia University, Department of Ophthalmology. Smeltzer Lecture. "Nightblindness and the State of Rod Cells in Rhodopsin Mutations." New York, NY. 1/10/2002.
American Ophthalmological Society. Verhoeff Lecture. Sea Island, GA., 5/19/2002.
Howard University, Department of Ophthalmology. Lois A. Young Memorial Lecture. "Ophthalmic Molecular Diagnostic Testing." Washington DC. 6/7/2002.
Louisiana State University. Chancellor's Award Lecture in Neuroscience and Ophthalmology. "Two Physiological Types of Nightblindness from Rhodopsin Mutations." New Orleans, LA. 11/20/2002.
Schepens Eye Research Institute, Harvard University. Broadhurst Distinguished Lecture. "Nightblindness and the State of Rod Cells in Retinitis Pigmentosa." Boston, MA. 2/10/2003.
University of Michigan, Department of Ophthalmology and Visual Sciences. The Harold F. Falls Chair Inauguration Lecture. 5/30/2003.
Duke University, Department of Ophthalmology. Bryan Research Lecturer. "Searching for Clues to AMD in Monogenetic Macular Degenerations." Durham, NC. 10/9/2003.
Washington Advisory Group workshop on "Emerging Therapies for Visual Impairment." Invited speaker.
San Diego, CA. 10/14/2003.
Association for Research in Vision and Ophthalmology (ARVO) Board of Trustees. Invited Speaker. Rockville, MD. 10/24/2003.
Macular Vision Research Foundation. Invited Speaker. Philadelphia, PA. 10/25/2003.
American Academy of Ophthalmology (AAO) Annual National Meeting. Retina Sub-Specialty Day. Invited Speaker. "New Thoughts on Juvenile Retinoschisis." Anaheim, CA. 11/15/2003.
Association of University Professors of Ophthalmology (AUPO) Clinician Scientist Symposium. Speaker. Sarasota, FL. 1/28/2004.
Foundation Fighting Blindness. "For the Love of Sight." Invited Speaker. Washington, DC. 2/11/2004.
University of Maryland. Neuroscience Program. Invited lecture. Baltimore, MD. 2/12/2004.
National Eye Health Education Program (NEHEP) Conference Plenary Speaker. Charleston, SC. 3/1/2004.
SUNY Syracuse. Neuroscience Program. Syracuse, NY. 3/3/2004.
Columbia University, Department of Ophthalmology. Age-Related Macular Degeneration Symposium on Pathogenesis and Therapeutic Strategies. New York, NY. 3/19/2004.
American Association for Pediatric Ophthalmology and Strabismus (AAPOS) Annual Meeting. Plenary Speaker. Washington DC. 3/30/2004.
Japanese Ophthalmological Society Meeting. Plenary Speaker. "X-linked Retinoschisis: From gene to treatment." Tokyo, Japan. 4/18/2004.
The Association for Research in Vision and Ophthalmology 2004. The Scientific and Medical Advisory Board of Retina International. Invited Speaker. Ft. Lauderdale, FL. April, 2004.
West Virginia University Center for Neuroscience Dedication and Symposium. Keynote Speaker. Morgantown, WV. 6/2/2004.
Ian Constable Lecture: "X-linked Retinoschisis as a Case Study in the Evolution of Disease Understanding." XI-th International Symposium on Retinal Degeneration. Perth, Australia. 8/23/2004.
Jackson Laboratory. "Laboratory Mouse in Vision Research Meeting." Keynote Address: "Supporting Ocular Genetic Research: Mice and Other Issues." Bar Harbor, ME. 10/15/2004.
American Academy of Ophthalmology (AAO) Annual National Meeting. Retina Sub-Specialty Day. Invited Speaker. "Ophthalmic Diagnostic Genotyping." New Orleans, LA. 10/23/2004.
Academia Ophthalmologica Internationalis Oration: "Juvenile X-linked Retinoschisis and the Evolution of Medical Knowledge." New Orleans, LA. 10/23/2004.
Society for Neuroscience. First public announcement of the NIH new "Neuroscience Blueprint." San Diego, CA. 10/25/2004.
American Society for Human Genetics. Symposium Moderator. "The Ophthalmologists' View of Genetics." Toronto, Canada. 10/27/2004.
National Neurovision Research Institute. "The NEI Translational Clinical Research Initiatives on Inherited and Orphan Retinal Diseases." Washington, DC. 11/5/2004.
International Society for Clinical Electrophysiology of Vision (ISCEV). Keynote Lecture. "Origins of ERG responses in the primate retina." San Juan, Puerto Rico. 11/15/2004.
NIDCD Research Retreat. Report of the Laboratory Section of Translational Research in Retinal and Macular Degeneration. Airlie House, VA. 11/18/2004.
Dean McGee Eye Institute, University of Oklahoma. New Building Announcement. Oklahoma City, OK. 11/22/2004.
David G. Cogan Clinician Scientist Symposium. Speaker. NEI/NIH. Bethesda, MD. 12/13/2004.
Doheny Eye Insitute, University of Southern California. Presentation to Residents. "X-Linked Retinoschisis: A case study in the evolution of disease concepts." Los Angeles, CA. 1/10/2005.
University of California, San Francisco. Roy H. Steinberg Memorial Lecture. San Francisco, CA. 1/13/2005.
Smith-Kettlewell Eye Research Institute. "Research Opportunities: Ocular genetics, neuroscience and nanomedicine." San Francisco, CA. 1/14/2005.
William Beaumont Hospital. Ropard Foundation Symposium. Keynote Speaker. "Juvenile X-linked Retinoschisis." Royal Oak, MI. 5/7/2005.
Academia Ophthalmologica Internationalis. "Ophthalmic Genetic Disease - Medicine in the 21st Century." Florence, Italy. 5/11/2005.
American Academy of Ophthalmology (AAO) Annual Meeting. Retina Sub-Specialty Day. Invited Speaker. "A Safety Study of CNTF Implants for Human Retinitis Pigmentosa Therapy." Chicago, IL. 10/15/2005.
University of Wisconsin, Department of Ophthalmology and Visual Sciences. Day-long educational symposium for 700 individuals with age-related macular degeneration - "Macular Degeneration - Progress in Sight V." Invited Speaker. "Nutritional Intervention, Pharmacologic Rescue Factors and Genetic Studies in Macular Degeneration." Madison, WI. 10/11/2005.
Lighthouse International. Mrs. Cecilia Schupf and Paul J. Schupf Annual Symposium. Award Lecture. "From Concepts to Treatments: Diabetic retinopathy, neuroscience and genetics opportunities." New York, NY. 10/21/2005
Tübingen University Eye Hospital. Symposium on the Function and Dysfunction of Vision. Invited Lecture. "Human Retinal Neurodegeneration Therapy with CNTF: Phase I study." Tübingen, Germany. 11/4/2005.
World Ophthalmology Congress. Invited Speaker. "Genetics and the Future of Ophthalmology" São Paulo, Brazil. 2/21/2006.
Washington University, St. Louis Ophthalmological Society. Invited Speaker. "Vision Research and the National Eye Institute." 3/16/2006.
The Association for Research in Vision and Ophthalmology 2006. Plenary Keynote Speaker. "Vision Research: Building Productive Partnerships across Geographic Boundaries." Ft. Lauderdale, FL. 4/30/2006.
The Association for Research in Vision and Ophthalmology 2006. Invited Speaker. "The Promise of Nanotechnology." Ft. Lauderdale, FL. 5/1/2006.
Federation of American Societies for Experimental Biology (FASEB). "Juvenile X-linked retinoschisis, electronegative ERGs, and the search for synaptic dysfunction." Indian Wells, CA. 7/19/2006.
John A. Moran Eye Center. 2006 Moran Symposium on Retinal Degeneration. Invited Lecture. "Treatment of Retinal Dystrophies." Salt Lake City, UT. 8/2/2006.
Chinese Ophthalmological Society. Third Global Chinese Ophthalmic Conference. "Nanomedicine in Ophthalmology" and "Ciliary Neurotrophic Factor (CNTF) Phase 1 clinical trial for retinal and macular degeneration." Beijing, China. 9/1/2006.
European Association for Vision and Eye Research (EVER). ACTA Keynote Lecture. "The Interplay of Clinical and Basic Knowledge in X-linked Retinoschisis." Vilamoura, Portugal. 10/5/2006.
European Paediatric Ophthalmological Society (EPOS). Keynote Lecture. "Ciliary Neurotrophic Factor (CNTF): Background and Outcome of a Phase 1-2 Clinical Trial for Retinal Degeneration." Vilamoura, Portugal. 10/6/2006.
HHMI-NIH Research Scholars and the NIH Clinical Research Training Program Fellows Seminar. Invited Speaker. "Genes, Human Eye Disease and Therapy." Bethesda, MD. 11/6/2006.
American Academy of Ophthalmology (AAO) Annual Meeting, Symposium on Developing International Research Collaborations. Invited Speaker. "The View from the NEI." Las Vegas, NV. 11/13/2006.
Ocular Epidemiology Symposium. "Future Directions in Ocular Epidemiology." Sarasota, FL. 1/31/2007.
Association of University Professors of Ophthalmology (AUPO) Annual Meeting. Speaker. "Update on NEI / NIH Activities." Indian Wells, CA. 2/3/2007.
IOM Neuroscience Biomarkers & Biosignatures Workshop: Converging Technologies, Emerging Partnerships. Speaker. "Current and Near-Term Impact of Biomarkers for Retinal Neurodegenerations." Washington, DC. 2/26/2007.
University of Michigan Genetics Grand Rounds. Speaker. "Dissecting a Mendelian Trait: X-linked Retinoschisis." Ann Arbor, MI. 3/8/2007.
Unite for Sight. Stanford University. Invited Speaker. "A Global Perspective for Vision Research." Palo Alto, CA. 4/14/07.
The Association for Research in Vision and Ophthalmology 2007. Invited Speaker. "Ophthalmic Genetics:
A look to the future of medicine." Ft. Lauderdale, FL. 5/7/2007.
The Association for Research in Vision and Ophthalmology 2007. Nanotechnology Group Organizing Conference. Speaker. "The NIH Nanomedicine Roadmap and the Vision Community." Ft. Lauderdale, FL. 5/8/2007.
Maryland Society of Eye Physicians and Surgeons. Keynote Speaker. "Ophthalmic Genetics: A look to the future of medicine." Baltimore, MD. 5/11/2007.
Medical University of South Carolina, Storm Eye Institute. 8th Annual Kerrison Endowed Lecture. Featured Speaker. "Genetic Ophthalmology: A look to the future of medicine." Charleston, SC. 6/14/2007.
NIH Research Festival. 20th Annual. Symposium on Forestalling Blindness: Two Decades of Progress. Symposium Speaker. "Stemming Vision Loss with CNTF for Retinal Degenerative Disease." Bethesda, MD. 9/26/2007.
National Institutes of Health. Medicine for the Public: 2007 Lecture Series. Invited Speaker. "From Childhood Blindness to Age-related Macular Degeneration: Genes, Eye Disease, and Prospects for Therapy." Bethesda, MD. 10/16/2007.
Schepens International Society Meeting. Invited Speaker. "Therapeutic strategies for photoreceptor neurodegenerative retinal dystrophies: CNTF phase 1 study for retinitis pigmentosa." Washington, DC. 10/26/2007.
Schepens International Society Meeting, Retina Symposium. Symposium Speaker. "Genetic ophthalmology: A look to the future of medicine." Washington, DC. 10/27/2007.
Foundation for Fighting Blindness (FFB) / Alliance for Eye and Vision Research (AEVR). Congressional Briefing. "Rare Eye Diseases: On the Brink of Breakthroughs". Washington, DC. 10/31/2007.
Prevention of Blindness Society of Metropolitan Washington, Saturday Sibley Hospital Lecture. Invited Speaker. "Ophthalmic genetics: A look to the future of medicine." Washington, DC. 11/17/2007.
Association of University Professors of Ophthalmology (AUPO). Speaker. "Update on NEI / NIH Activities." Sarasota, FL. 2/2/2008.
2008 Annual Meeting Association of Medical School Neuroscience Department Chairpersons. Invited Speaker. "Neuroscience at NIH and NEI." Christiansted, St. Croix, USVI. 3/7/2008.
2008 Walter Reed Army Medical Center Ophthalmology Service Biennial Meeting: Current Treatments of Ocular Inflammation, Uveitis, Refractive Surgery and Genetics. John Harry King Lecture. "Update on Ocular Genetics." Bethesda, MD. 3/24/2008.
Case Western Reserve University, Visual Sciences Research Center Symposium. Invited Speaker. "National Institutes of Health & National Eye Institute: Activities and Budget Perspectives." Cleveland, OH. 6/6/2008.
Case Western Reserve University, Visual Sciences Research Center Symposium. Invited Speaker. "Ophthalmic Genetics: Looking Toward Treatments." Cleveland, OH. 6/6/2008.
Illinois Eye & Ear Infirmary 150th Anniversary. Department of Ophthalmology, University of Illinois. The Peter C. Kronfeld, M.D. Memorial Lecture. "Genetic Ophthalmology: Looking Towards Treatments." 6/20/2008.
World Ophthalmology Congress. Invited Speaker. "Cell Based Drug Delivery to the Posterior Segment & the CNTF Implant." Hong Kong. 6/28/2008.
World Ophthalmology Congress. Invited Speaker. "Beyond a National Perspective: Global Research to Decrease Visual Impairment and Blindness." Hong Kong. 6/29/2008.
World Ophthalmology Congress. Invited Speaker. "Clinical Trial of Encapsulated CNTF for Retinitis Pigmentosa." Hong Kong. 6/30/2008.
Extraordinary Ophthalmology Conference. University of Wisconsin. Invited Speaker. "Genetic Ophthalmology: Heading for Treatments." Madison, Wisconsin 7/11/08.
Extraordinary Ophthalmology Conference. University of Wisconsin. Invited Speaker. "Nanotechnology, Nanomedicine and Vision." Madison, Wisconsin 7/11/08.
International Society for Clinical Electrophysiology of Vision (ISCEV) Annual Symposium. Invited Speaker. "Inner retinal sequelae of outer retinal disease:
Origins of ERG components in the RCS rat." Morgantown, WV. 7/14/08.
International Society for Genetic Eye Diseases and Retinoblastoma (ISGEDR) Annual Meeting. Invited Speaker.
"Gene Therapy for X-Linked Retinoschisis." Strasbourg, France. 8/29/08.
XVIII International Congress for Eye Research Annual Meeting (ICER) Annual Meeting. Invited Speaker.
"Background & Outcome of Phase I Human CNTF Clinical Trial for RP & Consideration of Phase II Design." Beijing, China. 9/28/08.
XVIII International Congress for Eye Research Annual Meeting (ICER) Annual Meeting. Co-Chair and Speaker.
"Ophthalmic Genetics: Looking Towards Treatments." Beijing, China. 9/28/08.

I
BIBLIOGRAPHY

Petition for a Writ of Habeas Corpus: Fiorenza v. Norton, United States District Court of Connecticut, Civil No.B74-297, 1974.

Brief for Defendent-Appellee: Giordano v. Norton, United States Court of Appeals Second Circuit, Docket No. 74-1394, 1974.
(NOTE: I wrote these as a summer intern in 1974 with the Jerome Frank Legal Service Organization, Yale Law School, and they were submitted to the court under the direction of the supervising attorney.)

Sieving PA, Fishman GA. Refractive errors of retinitis pigmentosa patients. Br J Ophthalmol 62:163-169 (1978).

Maggiano JM, Fishman GA, Evans LS, Sieving PA, Goldbaum M. Calibration error in dark adaptometer. Arch Ophthalmol 96:1082-1083 (1978).

Sieving PA, Fishman GA, Maggiano JM. Corneal wick electrode for recording bright flash electroretinograms and early receptor potentials. Arch Ophthalmol 96:899-900 (1978).

Sieving PA, Fishman GA. Rod contribution to the human ERP estimated from monochromats' data. Doc Ophthalmol Proc Ser 31:95-102 (1982).

Sieving PA, Fishman GA, Alexander KR, Goldberg MF. Early receptor potential (ERP) measurements in human ocular siderosis. Arch Ophthalmol 101:1716-1720 (1983).

Sieving PA, Fishman GA, Salzano, Rabb MF. Acute macular neuroretinopathy: early receptor potential change suggests photoreceptor pathology. Br J Ophthalmol 68:229-234 (1984).

Jampol LM, Sieving PA, Pugh D, Fishman GA, Gilbert H. Multiple evanescent white dot syndrome - Part I: Clinical findings. Arch Ophthalmol 102:671-674 (1984).

Sieving PA, Fishman GA, Jampol LM, Pugh D. Multiple evanescent white dot syndrome - Part II: Electrophysiology of photoreceptors during retinal pigment epithelial disease. Arch Ophthalmol 102:675-679 (1984).

Sieving PA, Steinberg RH. Contribution from proximal retina to intraretinal pattern ERG: the M-wave. Invest Ophthalmol Vis Sci 26:1642-1647 (1985).

Sieving PA, Niffenegger J, Berson EL. Electroretinographic findings in selected pedigrees with choroideremia. Am J Ophthalmol 101:361-367 (1986).

Sieving PA, Frishman LJ, Steinberg RH. M-wave of proximal retina in cat. J Neurophysiol 56(4):1039-1048 (1986).

Sieving PA, Frishman LJ, Steinberg RH. Scotopic threshold response (STR) of proximal retina in cat. J Neurophysiol 56(4):1049-1061 (1986).

Sieving PA, Steinberg RH. Proximal retinal contribution to the intraretinal 8-Hz pattern ERG of cat. J Neurophysiol 57(1):104-120 (1987).

Han D, Sieving PA, Johnson MW, Martonyi CL. Foveal retinoschisis associated with senile retinoschisis in a woman. Am J Ophthalmol 106:107-109 (1988).

Wakabayashi K, Gieser J, Sieving PA. Aspartate separation of the scotopic threshold response (STR) from the photoreceptor a-wave of the cat and monkey ERG. Invest Ophthalmol Vis Sci 29:1615-1622 (1988).

Sieving PA, Nino C. Scotopic Threshold Response (STR) of the human electroretinogram. Invest Ophthalmol Vis Sci 29:1608-1614 (1988).

Frishman LJ, Sieving PA, Steinberg RH. Contributions to the electroretinogram of currents originating in proximal retina. Vis Neurosci 1:307-315 (1988).

Ticho B, Sieving P. Leber's congenital amaurosis with marbleized fundus and juvenile nephronophthisis. Am J Ophthalmol 107:426-428 (1989).

Sieving PA, Bingham EL, Roth MS, Young MR, Boehnke M, Kuo C-Y, Ginsburg D. Linkage relationship of X-linked juvenile retinoschisis with Xp22.1-p22.3 probes. Am J Hum Genet 47:616-621 (1990).

Rowe SE, Trobe JD, Sieving PA. Idiopathic photoreceptor dysfunction causes unexplained visual acuity loss in later adulthood. Ophthalmology 97:1632-1637 (1990).

Naarendorp F, Sieving PA. The scotopic threshold response of the cat ERG is suppressed selectively by GABA and glycine. Vis Res 31:1-15 (1991).

Arrindell EL, Trobe JD, Sieving PA, Barnett JL. Pupillary and electroretinographic abnormalities in a family with neuronal intranuclear hyaline inclusion disease. Arch Ophthalmol 109:373-378 (1991).

Sieving PA. Retinal ganglion cell loss does not abolish the scotopic threshold response (STR) of the cat and human ERG. Clin Vis Sci 6:149-158 (1991).

Sieving PA, Wakabayashi K. Comparison of rod threshold ERG from monkey, cat and human. Clin Vis Sci 6:171-179 (1991).

Sneed SR, Sieving PA. Fenestrated sheen macular dystrophy. Am J Ophthalmol 112:1-7 (1991).

Murayama K, Kuo C-Y, Sieving PA. Abnormal threshold ERG response in X-linked juvenile retinoschisis: Evidence for a proximal retinal origin for the human STR. Clin Vis Sci 6:317-322 (1991).

Richards JE, Kuo C-Y, Boehnke M, Sieving PA. Rhodopsin Thr58Arg mutation in a family with autosomal dominant retinitis pigmentosa. Ophthalmology 98:1797-1805 (1991).

Geller AM, Sieving PA, Green DG. Effect on grating identification of sampling with degenerate arrays. J Opt Soc Am 9:472-477 (1992).

Murayama K, Sieving PA. Different rates of growth of human and monkey photopic ERG suggests two sites of light adaptation. Clin Vis Sci 7:385-392 (1992).

Geller AM, Sieving PA. Assessment of foveal cone photoreceptors in Stargardt's macular dystrophy using a small dot detection task. Vis Res 33:1509-1524 (1993).

Macke JP, Davenport CM, Jacobson SG, Hennessey JC, Gonzalez-Fernandez F, Heckenlively J, Finkelstein D, Palmer R, Maumenee IH, Pearce W, Sieving P, Gouras P, Nathans J. Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: Implications for the structure and function of rhodopsin. Am J Hum Genet 53:80-89 (1993).

Naarendorp F; Hitchcock PF; Sieving PA. Dopaminergic modulation of rod pathway signaling does not affect the scotopic ERG of cat at dark-adapted threshold. J Neurophysiol 70:1681-1691 (1993).

Bush RA, Sieving PA. A Proximal retinal component in the primate photopic ERG a-wave. Invest Ophthalmol Vis Sci 35:635-645 (1994).

Sieving PA. AOS Thesis: Photopic ON- and OFF-pathway abnormalities in retinal dystrophies. Trans Am Ophthalmol Soc LXXXXI:701-773 (1994).

Sieving PA, Murayama K, Naarendorp F. Push-pull model of the primate photopic electroretinogram: A role for hyperpolarizing neurons in shaping the b-wave. Vis Neurosci 11:519-532 (1994).

Yan D, Wong D, Zheng K, Thiselton D, Fujita R, Sieving PA, Bhattacharya SS, Yang-Feng TL, Richards JE, Swaroop A. Dinucleotide repeat polymorphism at the DXS977 locus is linked to OTC and DXS556 Hum Mol Genet 3:1030 (1994).

Sieving PA. Unilateral cone dystrophy: ERG changes implicate abnormal signaling by hyperpolarizing bipolar and/or horizontal cells. Tr Am Ophth Soc XCII:459-474 (1994).

Frishman LA, Sieving PA. Evidence for two sites of adaptation affecting the dark-adapted ERG of cats and primates. Vis Res 35:435-442 (1995).

Sieving, PA, Richards JE, Naarendorp F, Bingham EL, Scott K, Alpern M. Dark-light: Model for nightblindness from the human rhodopsin Gly90 -->Asp mutation. Proc Natl Acad Sci (USA) 92:880-884 (1995).

Pawar H, Bingham EL, Lunetta KL, Segal M, Richards J, Boehnke M, Sieving PA. Refined genetic mapping of juvenile X-linked retinoschisis. Hum Hered 45:206-210 (1995).

Richards JE, Scott KM, Sieving PA. Disruption of conserved rhodopsin disulfide bond by Cys187Tyr mutation causes early and severe autosomal dominant retinitis pigmentosa. Ophthalmology 102:669-677 (1995).

Bush RA, Hawks KW, Sieving PA. Preservation of inner retinal responses in the aged Royal College of Surgeons rat: evidence against glutamate excitotoxicity in photoreceptor degeneration. Invest Ophthalmol Vis Sci 36:2054-2062 (1995).

Fujita R, Blumberg M, Anderson D, Forsythe P, McHenry C, Yan D, Yang-Feng TL, Sieving PA, Swaroop A. A polymorphic trinucleotide repeat at DXS8170 in the critical region of X-linked retinitis pigmentosa locus RP3 at Xp21.1. Mol Vis 1:3 (1995).

Bush RA, Sieving PA. Inner retinal contributions to the primate photopic fast flicker electroretinogram. J Opt Soc Am 13:557-565 (1996).

Fujita R, Bingham E, Forsythe P, McHenry C, Aita V, Bradford AN, Dry K, Segal M, Devoto M, Bruns G, Wright AF, Ott J, Sieving PA, Swaroop A. A recombination outside the BB deletion refines the location of the X-linked retinitis pigmentosa locus RP3. Am J Hum Genet 59:152-158 (1996).

Hou Y-C, Richards JE, Bingham E, Pawar H, Scott K, Segal M, Lunetta KL, Boehnke M, Sieving PA. Linkage study of Best's vitelliform macular dystrophy (VMD2) in a large North American family. Hum Hered 46:211-220 (1996).

Naarendorp F, Rice KS, Sieving PA. Summation of rod and S-cone signals at threshold in human observers. Vision Res 36:2681-2688 (1996).

Sieving PA, Boskovich S, Bingham E, Pawar, H. Sorsby's fundus dystrophy in a family with a SER-181-CYS mutation in the TIMP-3 gene: Poor outcome after laser photocoagulation. Tr Am Ophth Soc, XCIV: 275-297 (1996).

Pawar H, Bingham EL, Hiriyanna K, Segal M, Richards JE, Sieving PA. X-linked juvenile retinoschisis: Localization between (DXS1195, DXS418) and AFM291wf5 on a single YAC. Hum Hered 46:329-335 (1996).

Humphries MM, Rancourt D, Farrar GJ, Kenna P, Hazel M, Bush RA, Sieving PA, Sheils DM, McNally N, Creighton P, Erven A, Boros A, Gulya K, Capecchi MR, Humphries P. Retinopathy induced in mice by targeted disruption of the rhodopsin gene. Nat Genet 15:216-219 (1997).

Kim S, Bush RA, Sieving PA. Increased phase lag of the fundamental harmonic component of the 30Hz flicker ERG in Schubert-Bornschein complete-type CSNB. Vis Res 37:2471-2475 (1997).

Fujita R, Buraczynska M, Gieser L, Wu W, Forsythe P, Abrahamson M, Jacobson SG, Sieving PA, Andreasson S, Swaroop A. Analysis of the RPGR gene in 11 pedigrees with the RP3 genotype: paucity of mutations in the coding region and splice defects in two families. Am J Hum Gen 61:571-580 (1997).

Buraczynska M, Wu W, Fujita R, Buraczynska K, Phelps E, Andreasson S, Bennett J, Birch DG, Fishman GA, Hoffman DR, Inana G, Jacobson SG, Musarella MA, Sieving PA, Swaroop A. Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa. Am J Hum Gen 61:1287-1292 (1997).

Farjo Q, Jackson A, Pieke-Dahl S, Scott K, Kimberling WJ, Sieving PA, Richards JE, Swaroop A. Human bZIP transcription factor gene NRL: structure, genomic sequence, and fine linkage mapping at 14q11.2 and negative mutation analysis in patients with retinal degeneration. Genomics 45:395-401 (1997).

Swain PK, Chen S, Wang Q-L, Affatigato LM, Coats CL, Brady KD, Fishman GA, Jacobson SG, Swaroop A, Stone E, Sieving PA, Zack DJ. Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration. Neuron 19:1329-1336 (1997).

Innis JW, Sieving PA, McMillan P, Weatherly RA. Apparently new syndrome of sensorineural hearing loss, retinal pigment epithelium lesions, and discolored teeth. Am J Med Gen 75:13-17 (1998).

Sieving PA, Arnold EB, Jamison J, Liepa A, Coats C. Submicrovolt flicker electroretinogram: Cycle-by-cycle recording of multiple harmonics with statistical estimation of measurement uncertainty. Invest Ophthalmol Vis Sci 39:1462-1469 (1998).

Sugawara T, Sieving PA, Iuvone M, Bush RA. The melatonin antagonist luzindole protects retinal photoreceptors from light damage in the rat. Invest Ophthalmol Vis Sci 39:2458-2465 (1998).

The Retinoschisis Consortium (Group 3: Hiriyanna KT, Bingham EL, McHenry C, Pawar H, Coats C, Darga T, Richards JE, Sieving PA: W. K. Kellogg Eye Center, University of Michigan, Ann Arbor, MI, USA). Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS). Hum Mol Genet 7:1185-1192 (1998).

Swaroop A, Wang Q-L, Wu W, Cook J, Coats C, Xu S, Chen S, Zacks DJ, Sieving PA. Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function. Hum Mol Genet 8:299-305 (1999).

Walpole SM, Hiriyanna KT, Nicolaou A, Bingham EL, Durham J, Vaudin M, Ross MT, Yates JR, Sieving PA, Trump D. Identification and characterization of the human homologue (RAI2) of a mouse retinoic acid-induced gene in Xp22. Genomics 55:275-283 (1999).

Mears AJ, Gieser L, Yan D, Chen C, Fahrner S, Hiriyanna S, Fujita R, Jacobson SG, Sieving PA, Swaroop A. Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa. Am J Hum Gen 64:897-900 (1999).

Toda K, Bush RA, Humphries P, Sieving PA. The electroretinogram of the rhodopsin knockout mouse. Vis Neurosci 16:391-398 (1999).

Caldwell GM, Kakuk LE, Griesinger IB, Simpson SA, Nowak NJ, Small KW, Maumenee IH, Rosenfeld PJ, Sieving PA, Shows TB, Ayyagari R. Bestrophin gene mutations in patients with Best vitelliform macular dystrophy. Genomics 58:98-101 (1999).

McNally N, Kenna P, Humphries MM, Hobson AH, Khan NW, Bush RA, Sieving PA, Humphries P, Farrar GJ. Structural and functional rescue of murine rod photoreceptors by human rhodopsin transgene. Hum Mol Genet 8:1309-1312 (1999).

Ayyagari R, Kakuk LE, Coats CL, Bingham EL, Toda Y, Felius J, Sieving PA. Bilateral macular atrophy in blue cone monochromacy (BCM) with loss of the locus control region (LCR) and part of the red pigment gene. Mol Vis 5:13 (1999).

Sieving PA, Bingham EL, Kemp J, Richards J, Hiriyanna K. Juvenile X-linked retinoschisis from XLRS1 Arg213Trp mutation with preservation of the electroretinogram scotopic b-wave. Am J Ophthalmol 128:179-184 (1999).

Mendoza-Londono R, Hiriyanna KT, Bingham EL, Rodriguez F, Shastry BS, Rodriguez A, Sieving PA, Tamayo ML. A Colombian family with X-linked juvenile retinoschisis with three affected females: finding of a frameshift mutation. Ophthalmic Genet 20:37-43 (1999).

Hiriyanna KT, Bingham EL, Yashar BM, Ayyagari R, Fishman G, Small KW, Weinberg DV, Weleber RG, Lewis RA, Andreasson S, Richards JE, Sieving PA. Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change. Hum Mut 14:423-427 (1999).

Sieving PA, Yashar BM, Ayyagari R. Juvenile retinoschisis: a model for molecular diagnostic testing of X-linked ophthalmic disease. Trans Am Ophthalmol Soc 97:451-464 (1999).

Lei B, Bush RA, Milam AH, Sieving PA. Human melanoma-associated retinopathy (MAR) antibodies alter the retinal ON-response of the monkey ERG in vivo. Invest Ophthalmol Vis Sci 41:262-266 (2000).

Ayyagari R, Griesinger IB, Bingham E, Lark KK, Moroi SE, Sieving PA. Autosomal dominant hemorrhagic macular dystrophy not associated with the TIMP3 Gene. Arch Ophthalmol 118:85-92 (2000).

Griesinger IB, Sieving PA, Ayyagari R. Autosomal dominant macular atrophy at 6q14 excludes CORD7 and MCDR1/PBCRA loci. Invest Ophthalmol Vis Sci 41:248-255 (2000).

Ayyagari R, Kakuk LE, Bingham EL, Szczesny JJ, Kemp J, Toda Y, Felius J, Sieving PA. Spectrum of color gene deletions and phenotype in patients with blue cone monochromacy. Hum Gen 107:75-82 (2000).

Mears AJ, Hiriyanna S, Vervoort R, Yashar B, Gieser L, Fahrner S, Daiger SP, Heckenlively JR, Sieving PA, Wright AF, Swaroop A. Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15. Am J Hum Gen 67:1000-1003 (2000).

Sugawara T, Sieving PA, Bush RA. Quantitative relationship of the scotopic and photopic ERG to photoreceptor cell loss in light damaged rats. Exp Eye Res 70:693-705 (2000).

Eksandh LC, Ponjavic V, Ayyagari R, Bingham EL, Hiriyanna KT, Andreasson S, Ehinger B, Sieving PA.. Phenotypic expression of juvenile X-linked retinoschisis in Swedish families with different mutations in the XLRS1 gene. Arch Ophthalmol 118:1098-1104 (2000).

Machida S, Kondo M, Jamison J, Khan NW, Kononen LT, Sugawara T, Bush RA, Sieving PA. P23H rhodopsin transgenic rat: correlation of retinal function with histopathology. Invest Ophthalmol Vis Sci 41:3200-3209 (2000).

Bush RA, Kononen L, Machida S, Sieving PA. The effect of calcium channel blocker diltiazem on photoreceptor degeneration in the rhodopsin pro23His rat. Invest Ophthalmol Vis Sci 41:2697-2701 (2000).

Kohl S, Baumann B, Broghammer M, Jägle H, Sieving P, Kellner U, Spegal R, Anastasi M, Zrenner E, Sharpe LT, Wissinger B. Mutation in the CNGB3 gene encoding the -subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. Hum Mol Genet 9:2107-2116 (2000).

Hrach CJ, Johnson MW, Hassan AS, Lei B, Sieving PA, Elner VM. Retinal toxicity of commercial intravitreal tissue plasminogen activator solution in cat eyes. Arch Ophthalmol 118:659-663 (2000).

Thompson DA, Gyürüs P, Fleischer LL, Bingham EL, McHenry CL, Apfelstedt-Sylla E, Zrenner E, Lorenz B, Richards JE, Jacobson SG, Sieving PA, Gal A. Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration. Invest Ophthalmol Vis Sci 41:4293-4299 (2000).

Kondo M, Sieving PA. Primate photopic sine-wave flicker ERG: vector modeling analysis of component origins using glutamate analogs. Invest Ophthalmol Vis Sci 42:305-312 (2001).

Zhang K, Kniazeva M, Han M, Li W, Yu Z, Yang Z, Li Y, Metzker ML, Allikmets R, Zack DJ, Kakuk LE, Lagali PS, Wong PW, MacDonald IM, Sieving PA, Figueroa DJ, Austin CP, Gould RJ, Ayyagari R, Petrukhin K. A five base-pair deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy. Nat Genet 27:89-93 (2001).

Sieving PA, Chaudhry P, Kondo M, Provenzano M, Wu D, Carlson TJ, Bush RA, Thompson DA. Inhibition of the visual cycle in vivo by 13-cis retinoic acid protects from light damage and provides a mechanism for night blindness in isotretinoin therapy. Proc Natl Acad Sci (USA) 98:1835-1840 (2001).

Machida S, Chaudhry P, Shinohara T, Singh DP, Reddy VN, Chylack LT Jr, Sieving PA, Bush RA. Lens epithelium-derived Growth Factor (LEDGF) promotes photoreceptor survival in light-damaged and Royal College of Surgeons (RCS) rats. Invest Ophthalmol Vis Sci 42:1087-1095 (2001).

Jamison JA, Bush RA, Lei B, Sieving PA. Characterization of the rod photoresponse isolated from the dark-adapted primate ERG. Vis Neurosci 18:445-455 (2001).

Sieving PA, Fowler ML, Bush RA, Machida S, Calvert PD, Green DG, Makino CL, McHenry CL. Constitutive "light" adaptation in rods from G90D rhodopsin: a mechanism for human congenital nightblindness without rod cell loss. J Neurosci 21:5449-5460 (2001).

Mears AJ, Kondo M, Swain PK, Takada Y, Bush RA, Saunders TL, Sieving PA, Swaroop A. Nrl is required for rod photoreceptor development. Nat Genet 29:447-452 (2001).

Weinberg DV, Sieving PA, Bingham EL, Jampol LM, Mets MB. Bietti crystalline retinopathy and juvenile retinoschisis in a family with a novel RS1 mutation (Letter to Editor). Arch Ophthalmol 119:1719-1721 (2001).

Sieving PA. Fifteen years of work: the COMS outcomes for medium-sized choroidal melanoma (Editorial). Arch Ophthalmol 119: 1067-1068 (2001).

Thompson DA, Li Y, McHenry CL, Carlson TJ, Ding X, Sieving PA, Apfelstedt-Sylla E, Gal A. Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy. Nat Genet 28: 123-124 (2001).

Humphries MM, Kiang S, McNally N, Donovan MA, Sieving PA, Bush RA, Machida S, Cotter T, Hobson A, Farrar J, Humphries P, Kenna P. Comparative structural and functional analysis of photoreceptor neurons of Rho-/-mice reveal increased survival on C57BL/6J in comparison to 129Sv genetic background. Vis Neurosci 18: 437-443 (2001).

Khan NW, Jamison JA, Kemp JA, Sieving PA. Analysis of photoreceptor function and inner retinal activity in juvenile X-linked retinoschisis. Vision Res 41:3931-3942 (2001).

Ayyagari R, Zhang K, Hutchinson A, Yu Z, Swaroop A, Kakuk LE, Seddon JM, Bernstein PS, Lewis RA, Tammur J, Yang Z, Li Y, Zhang H, Yashar BM, Liu J, Petrukhin K, Sieving PA, Allikmets R. Evaluation of the ELOVL4 gene in patients with age-related macular degeneration. Ophthalmic Genet 22:233-239 (2001).

Felius J, Thompson DA, Khan NW, Bingham EL, Jamison JA, Kemp JA, Sieving PA. Clinical course and visual function in a family with mutations in the RPE65 gene. Arch Ophthalmol 120:55-61 (2002).

Traverso V, Bush RA, Sieving PA, Deretic D. Retinal cAMP levels during the progression of retinal degeneration in rhodopsin P23H and S334ter transgenic rats. Invest Ophthalmol Vis Sci 43:1655-1661 (2002).

Breuer DK, Yashar BM, Filippova E, Hiriyanna S, Lyons RH, Mears AJ, Asaye B, Acar C, Vervoort R, Wright AF, Musarella MA, Wheeler P, MacDonald I, Iannaccone A, Birch D, Hoffman DR, Fishman GA, Heckenlively JR, Jacobson SG, Sieving PA, Swaroop A. A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. Am J Hum Genet 70:1545-1554 (2002).

Kondo M, Sieving PA. Post-photoreceptoral activity dominates primate photopic 32-Hz ERG for sine-, square-, and pulsed stimuli. Invest Ophthalmol Vis Sci 43:2500-2507 (2002).

Ayyagari R, Demirci FY, Liu J, Bingham EL, Stringham H, Kakuk LE, Boehnke M, Gorin MB, Richards JE, Sieving PA. X-linked recessive atrophic macular degeneration from RPGR mutation. Genomics 80:166-171 (2002).

Rivolta C, Ayyagari R, Sieving PA, Berson EL, Dryja TP. Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis. Mol Vis 9:49-51 (2003)

Acar C, Mears AJ, Yashar BM, Maheshwary AS, Andreasson S, Baldi A, Sieving PA, Iannaccone A, Musarella MA, Jacobson SG, Swaroop A. Mutation screening of patients with Leber congenital amaurosis or the enhanced S-cone syndrome reveals a lack of sequence variations in the NRL gene. Mol Vis 9:14-17 (2003).

Radu RA, Mata NL, Nusinowitz S, Liu X, Sieving PA, Travis GH. Treatment with isotretinoin inhibits lipofuscin accumulation in a mouse model of recessive Stargardt's macular degeneration. Proc Natl Acad Sci (USA) 100: 4742-4747 (2003).

Ahmed ZM, Riazuddin S, Ahmad J, Bernstein SL, Guo Y, Sabar MF, Sieving P, Griffith AJ, Friedman TB, Belyantseva IA, Wilcox ER. PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23. Hum Mol Genet 12:3215-3223 (2003).

Lee TK, McTaggart KE, Sieving PA, Heckenlively JR, Levin AV, Greenberg J, Weleber RG, Tong PY, Anhalt EF, Powell BR, MacDonald IM. Clinical diagnoses that overlap with choroideremia. Can J Ophthalmol 38:364-372; quiz 372 (2003).

Moroi SE, Lark KK, Sieving PA, Nouri-Mahdavi K, Schlotzer-Schrehardt U, Katz GJ, Ritch R. Long anterior zonules and pigment dispersion. Am J Ophthalmol 136:1176-1178 (2003).

Schimmenti LA, Manligas GS, Sieving PA. Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome. Ophthalmic Genet 24:191-202 (2003).

McHenry CL, Liu Y, Feng W, Nair AR, Feathers KL, Ding X, Gal A, Vollrath D, Sieving PA, Thompson DA. MERTK arginine-844-cysteine in a patient with severe rod-cone dystrophy: loss of mutant protein function in transfected cells. Invest Ophthalmol Vis Sci 45:1456-1463 (2004).

Abecasis GR, Yashar BM, Zhao Y, Ghiasvand NM, Zareparsi S, Branham KE, Reddick AC, Trager EH, Yoshida S, Bahling J, Filippova E, Elner S, Johnson MW, Vine AK, Sieving PA, Jacobson SG, Richards JE, Swaroop A. Age-related macular degeneration: a high resolution genome scan for susceptibility loci in a population enriched for late-stage disease. Am J Hum Genet 74:482-494 (2004).

Ambasudhan R, Wang XF, Jablonski MM, Thompson DA, Lagali PS, Wong PW, Sieving PA, Ayyagari, R. Atrophic macular degeneration mutations in ELOVL4 result in the intracellular misrouting of the protein. Genomics 83:615-625 (2004).

Mandal NA, Ambasudhan R, Wong PW, Gage PJ, Sieving PA, Ayyagari R. Characterization of mouse orthologue of ELOVL4: genomic organization and spatial and temporal expression. Genomics 83:626-635 (2004).

Bush RA, Lei B, Tao W, Raz D, Chan C, Cox TA, Santos-Muffley M, Sieving PA. Encapsulated cell-based intraocular delivery of ciliary neurotrophic factor in normal rabbit: dose-dependent effects on ERG and retinal histology. Invest Ophthalmol Vis Sci 45:2420-2430 (2004).

Takada Y, Fariss RN, Tanikawa A, Zeng Y, Carper D, Bush R, Sieving PA. A retinal neuronal "developmental wave" of retinoschisin expression begins in ganglion cells during layer formation. Invest Ophthalmol Vis Sci 45:3302-3312 (2004).

Zeng Y, Takada Y, Kjellstrom S, Hiriyanna K, Tanikawa A, Wawrousek E, Smaoui N, Caruso R, Bush RA, Sieving PA. RS-1 gene delivery to an adult Rs1h knockout mouse model restores ERG b-wave with reversal of the electronegative waveform of X-linked retinoschisis. Invest Ophthalmol Vis Sci 45:3279-3285 (2004).

Kohl S, Varsanyi B, Abadin G, Antunez B, Hoyng C, Jägle H, Rosenberg T, Kellner U, Lorenz B, Salati R, Jurklies B, Farkas A, Andreasson S, Weleber R, Jacobson S, Rudolph G, Castellan C, Dollfus H, Legius E, Anastasi M, Bitoun P, Lev D, Sieving PA, Munier F, Zrenner E, Sharp L, Cremers F, Wissinger B. CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Eur J Hum Genet 13:302-308 (2005).

Khan NW, Kondo M, Hiriyanna KT, Jamison JA, Bush RA, Sieving PA. Primate retinal signaling pathways: Suppressing ON-pathway activity in monkey with glutamate analogs mimics human genetic CSNB1-NYX night blindness. J Neurophysiol 93:481-492 (2005).

Riazuddin SA, Zulfiqar F, Zhang Q, Sergeev YV, Qazi ZA, Husnain T, Caruso R, Riazuddin S, Sieving PA, Hejtmancik JF. Autosomal Recessive Retinitis Pigmentosa Is Associated with Mutations in RP1 in Three Consanguineous Pakistani Families. Invest Ophthalmol Vis Sci 46:2264-2270 (2005).

Brzezinski JA 4th, Brown NL, Tanikawa A, Bush RA, Sieving PA, Vitaterna MH, Takahashi JS, Glaser T. Loss of circadian photoentrainment and abnormal retinal electrophysiology in math5 mutant mice. Invest Ophthalmol Vis Sci 46:2540-2551 (2005).

Zhang Q, Zulfiqar F, Riazuddin SA, Xiao X, Yasmeen A, Rogan PK, Caruso R, Sieving PA, Riazuddin S, Hejtmancik JF. A variant form of Oguchi disease mapped to 13q34 associated with partial deletion of GRK1 gene. Mol Vis 11:977-985 (2005).

Mandal MN, Heckenlively JR, Burch T, Chen L, Vasireddy V, Koenekoop RK, Sieving PA, Ayyagari R. Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platform. Invest Ophthalmol Vis Sci 46:3355-3362 (2005).

Vasireddy V, Vijayasarathy C, Huang J, Wang XF, Jablonski MM, Petty HR, Sieving PA, Ayyagari, R. Stargardt-like macular dystrophy protein ELOVL4 exerts a dominant negative effect by recruiting wild-type protein into aggresomes. Mol Vis 11:665-676 (2005).

Ayyagari R, Mandal MN, Karoukis AJ, Chen L, McLaren NC, Lichter M, Wong DT, Hitchcock PF, Caruso RC, Moroi SE, Maumenee IH, Sieving PA. Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation. Invest Ophthalmol Vis Sci 46:3363-3371 (2005).

Zhang Q, Zulfiqar F, Xiao X, Riazuddin SA, Ayyagari R, Sabar F, Caruso R, Sieving PA, Riazuddin S, Hejtmancik JF. Severe autosomal recessive retinitis pigmentosa maps to chromosome 1p13.3-p21.2 between D1S2896 and D1S457 but outside ABCA4. Hum Genet 118:356-65 (2005).

Thompson DA, Janecke AR, Lange J, Feathers KL, Hübner CA, McHenry CL, Stockton DW, Rammesmayer G, Lupski JR, Antinolo G, Ayuso C, Baiget M, Gouras P, Heckenlively JR, den Hollander A, Jacobson SG, Lewis RA, Sieving PA, Wissinger B, Yzer S, Zrenner E, Utermann G, and Gal A. Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle. Hum Mol Genet 14:3865-3875 (2005).

Sieving PA, Caruso RC, Tao W, Coleman HR, Thompson DJS, Fullmer KR, Bush RA. Ciliary neurotrophic factor (CNTF) for human retinal degeneration: Phase I trial of CNTF delivered by encapsulated cell intraocular implants. Proc Natl Acad Sci (USA) 103: 3896-3901 (2006).

Raz-Prag D, Ayyagari R, Fariss RN, Mandal MN, Vasireddy V, Majchrzak S, Webber AL, Bush RA, Salem N Jr, Petrukhin K, Sieving PA. Haploinsufficiency is not the key mechanism of pathogenesis in a heterozygous Elovl4 knockout mouse model of STGD3 disease. Invest Ophthalmol Vis Sci 47:3603-3611 (2006).

Haywood-Watson RJ 2nd, Ahmed ZM, Kjellstrom S, Bush RA, Takada Y, Hampton LL, Battey JF, Sieving PA, Friedman TB. Ames Waltzer deaf mice have reduced electroretinogram amplitudes and complex alternative splicing of Pcdh15 transcripts. Invest Ophthalmol Vis Sci 47:3074-3084 (2006).

Prenner JL, Capone A Jr, Ciaccia S, Takada Y, Sieving PA, Trese MT. Congenital X-linked retinoschisis classification system. Retina 26/7:S61-S64 (2006).

Takada Y, Fariss RN, Møller M, Bush RA, Rushing EJ, Sieving PA. Retinoschisin expression and localization in rodent and human pineal and consequences of mouse RS1 gene knockout. Mol Vis 12:1108-1116 (2006).

Vasireddy V, Jablonski MM, Mandal MN, Raz-Prag D, Wang XF, Nizol L, Iannaccone A, Musch DC, Bush RA, Salem N Jr, Sieving PA, Ayyagari R. Elovl4 5-bp-deletion knock-in mice develop progressive photoreceptor degeneration. Invest Ophthalmol Vis Sci 47:4558-68 (2006).

Camasamudrum V, Gawinowicz MA, Zeng Y, Takada Y, Bush RA, Sieving PA. Identification and characterization of two mature isoforms of retinoschisin in murine retina. Biochem Biophys Res Commun 13;349(1):99-105 (2006).

Riazuddin SA, Zulfiqar F, Zhang Q, Yao W, Li S, Jiao X, Shahzadi A, Amer M, Iqbal M, Hussnain T, Sieving PA, Riazuddin S, Hejtmancik JF. Mutations in the gene encoding the a-subunit of rod phosphodiesterase in consanguineous Pakistani families. Mol Vis 12:1283-1291 (2006).

Aslanukov A, Bhowmick R, Guruju M, Oswald J, Raz D, Bush RA, Sieving PA, Lu X, Bock CB, Ferreira PA. RanBP2 modulates Cox11 and hexokinase I activities and haploinsufficiency of RanBP2 causes deficits in glucose metabolism. PLoS Genet 2(10): 1653-1665; e177 (doi:10.1371/journal.pgen.0020177.eor) (2006).

Wen R, Song Y, Kjellstrom S, Tanikawa A, Liu Y, Li Y, Zhao Y, Bush RA, Laties AM, Sieving PA. Regulation of rod phototransduction machinery by ciliary neurotrophic factor. J Neurosci 26:13523-13530 (2006).

Downs K, Zacks DN, Caruso R, Karoukis AJ, Branham K, Yashar BM, Haimann M, Trzupek K, Meltzer M, Blain D, Richards JE, Weleber RG, Heckenlively JR, Sieving PA, Ayyagari R. Molecular testing for hereditary retinal disease as part of clinical care. Arch Ophthalmol, 125:252-8 (2007).

Sieving PA, Collins FS. Commentary: Genetic ophthalmology in the era of clinical care. JAMA 297(7):733-736 (2007).

Vijayasarathy C, Takada Y, Zeng Y, Bush RA, Sieving PA. Retinoschisin is a peripheral membrane protein with affinity for anionic phospholipids and affected by divalent cations. Invest Ophthalmol Vis Sci 48: 991-1000 (2007).

Macdonald IM, Sauvé Y, Sieving PA. Preventing blindness in retinal disease: ciliary neurotrophic factor intraocular implants. Can J Ophthalmol 42(3):399-402 (2007).

Zhang Q, Zulfiqar F, Xiao X, Riazuddin SA, Ahmad Z, Caruso R, Macdonald I, Sieving P, Riazuddin S, Hejtmancik JF. Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene. Hum Genet. 122:293-299 (2007).

Kjellstrom S, Bush RA, Zeng Y, Takada Y, Sieving PA. Retinoschisin gene therapy and natural history in the Rs1h-KO mouse: Long-term rescue from retinal degeneration. Invest Ophthalmol Vis Sci 48:3837-45 (2007).

Khan NW, Wissinger B, Kohl S, Sieving PA. CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function. Invest Ophthalmol Vis Sci 48:3864-71 (2007).

Woodruff ML, Olshevskaya EV, Savchenko AB, Peshenko IV, Barrett R, Bush RA, Sieving PA, Fain GL, Dizhoor, AM. Constitutive excitation by Gly90Asp rhodopsin rescues rods from degeneration caused by elevated production of cGMP in the dark. J Neurosci 27:8805-15 (2007).

MacDonald IM, Brooks BP, Sieving PA. Eyeing a new network. Science 318(5853):1068 (2007).

Machida S, Raz-Prag D, Fariss RN, Sieving PA, Bush RA. Photopic ERG negative response from amacrine cell signaling in RCS rat retinal degeneration. Invest Ophthalmol Vis Sci 49(1):442-52 (2008).

Vijayasarathy C, Takada Y, Zeng Y, Bush RA, Sieving PA. Organization and molecular interactions of retinoschisin in photoreceptors. Adv Exp Med Biol 613:291-7 (2008).

Brooks BP, Macdonald IM, Tumminia SJ, Smaoui N, Blain D, Nezhuvingal AA, Sieving PA. Genomics in the Era of Molecular Ophthalmology: Reflections on the National Ophthalmic Disease Genotyping Network (eyeGENE). Arch Ophthalmol 126(3):424-5 (2008).

Takada Y, Vijayasarathy C, Zeng Y, Kjellstrom S, Bush RA, Sieving PA. Synaptic pathology in retinoschisis knockout (Rs1-/y) mouse retina and modification by rAAV-Rs1 gene delivery. Invest Ophthalmol Vis Sci 49(8):3677-86 (2008).

Dizhoor AM, Woodruff ML, Olshevskaya EV, Cilluffo MC, Cornwall MC, Sieving PA, Fain GL. Night blindness and the mechanism of constitutive signaling of mutant G90D rhodopsin. J Neurosci 28(45):11662-72 (2008).

Ahmed ZM, Kjellstrom S, Haywood-Watson RJ, Bush RA, Hampton LL, Battey JF, Riazuddin S, Frolenkov G, Sieving PA, Friedman TB. Double homozygous waltzer and Ames waltzer mice provide no evidence of retinal degeneration. Mol Vis 14:2227-36 (2008).

Articles / Book Chapters

Steinberg RH, Frishman LJ, Sieving PA. Negative Components of the Electroretinogram from Proximal Retina and Photoreceptor. In: Progress in Retinal Research, Pergamon Press, New York, Vol 10:121-160. 1991.

Sieving PA. In: Handbook of Clinical Electrophysiology of Vision Testing. (Eds.: J. Heckenlively and G. Arden). Mosby Year Book Publishers, St. Louis, 1991. Chapter 26: Digital Band-Pass Filtering for Electrophysiologic Recording Systems. (pp 205-210).
Chapter 46: Scotopic Threshold Response. (pp 352-362).
Chapter 101: Electroretinographic Detection of Female Carriers (Heterozygotes) of X-Linked Recessive Retinitis Pigmentosa. (pp 741-743).
Chapter 102: Evaluation of the X-Linked Carrier State in Choroideremia. (pp 744-747).

Sieving PA, Murayama K. Retinitis Pigmentosa. Chapter 65 (pp 534-541). In: Diagnostic Problems in Clinical Ophthalmology. (Eds.: C. Margo, L.M. Hamed, R.N. Mames). W.B. Saunders, Philadelphia, 1993.

Sieving PA, Wakabayashi K. Bull's-eye Maculopathies. Chapter 67 (pp 547-555). In: Diagnostic Problems in Clinical Ophthalmology. (Eds.: C. Margo, L.M. Hamed, R.N. Mames). W.B. Saunder, Philadelphia, 1993.

Geller AM, Sieving PA. How many foveal cones are required to "see"?: Counting photoreceptors in Stargardt's macular dystrophy and modeling with degenerate visual arrays. In: Retinal Degeneration: Clinical and Laboratory Applications. (Eds.: J.G. Hollyfield, R.E. Anderson, M.M. LaVail). Plenum Publishing Co., New York pp 25-34, 1993.

Sieving PA. Diagnostic Issues with Inherited Retinal and Macular Dystrophies. In: Seminars in Ophthalmology: W. B. Saunders Company. Vol 10: 279-294, 1995.

Sieving PA. Questions for "ProVision: Preferred Responses in Ophthalmology, Series 2" (Ed.: Gregory L. Skuta). American Academy of Ophthalmology, 1996.

Sieving PA. Electrical Signals of the Retina and Visual Cortex. Chapter 13 (pp 1-15). In: Duane's Foundations of Clinical Ophthalmology. (Eds.: W. Tasman, E.A. Jaeger). J B Lippincott, Philadelphia, 1996.

Sieving PA. Juvenile Retinoschisis. Chapter 18. In: A Textbook of Genetic Diseases of the Eye. (Ed: E.I. Traboulsi.) Oxford University Press, New York, NY, 1998.

Sieving PA. Retinitis Pigmentosa and Related Disorders." Chapter 8.11. In Ophthalmology. Myron Yanoff and Jay Duker, Editors. Mosby International, London, 1998.

Ayyagari R, Kakuk LE, Toda Y, Coats CL, Bingham EL, Szczesny JJ, Felius J, Sieving PA. Blue cone monochromacy: Macular degeneration in individuals with cone specific gene loss. Chapter 22 (pp 223-234). In: Retinal Degenerative Diseases and Experimental Therapy. Eds: J.G. Hollyfield, R.E. Anderson, and M.M. LaVail. Plenum Publishing Corp., New York, NY, 1999.

Bush RA, Sugawara T, Iuvone PM, Sieving PA. Melatonin receptor blockers enhance photoreceptor survival and function in light damaged rat retina. In: Retinal Degenerative Diseases and Experimental Therapy. Eds: J.G. Hollyfield, R.E. Anderson, and M.M. LaVail. Plenum Publishing Corp., New York, NY, 1999.

Griesinger IB, Sieving PA, Ayyagari R. Autosomal dominant macular degeneration localized to chromosome 6q by linkage analysis. In: Retinal Degenerative Diseases and Experimental Therapy. Eds: J.G. Hollyfield, R.E. Anderson, and M.M. LaVail. Plenum Publishing Corp., New York, NY, pp 175-182, 1999.

Sieving, PA. Electrophysiologie. In: Précis d'ophtalmologie. Ed: X.D. Martin. Editions PAYOT, Lausanne, Switzerland. 2001.

Anderson RE, Sieving PA, Maude MB, Naash MI. DHA levels in rod outer segments of transgenic mice expressing G90D rhodopsin mutations. In: New Insights Into Retinal Degenerative Diseases. Eds: R.E. Anderson, M.M. LaVail, and J.G. Hollyfield. Plenum Publishing Corp., New York. 2001.

Breuer DK, Affer M, Andreasson S, Birch DG, Fishman GA, Heckenlively JR, Hiriyanna S, Hoffman DR, Jacobson SG, Mears AJ, Musarella MA, Redolfi B, Sieving PA, Wright AF, Yasher BM, Zucchi I, Swaroop A. X-linked retinitis pigmentosa: Current status. In: New Insights Into Retinal Degenerative Diseases. Eds: R.E. Anderson, M.M. LaVail, and J.G. Hollyfield. Plenum Publishing Corp., New York. 2001.

Hiriyanna KT, Singh R, Bingham EL, Kemp JA, Ayyagari R, Yashar B, Sieving PA. Searching for genotype-phenotype correlations in X-linked juvenile retinoschisis. In: New Insights Into Retinal Degenerative Diseases. Eds: R.E. Anderson, M.M. LaVail, and J.G. Hollyfield. Plenum Publishing Corp., New York. 2001.

Sieving PA, MacDonald IM, Khan NW. In: Handbook of Clinical Electrophysiology of Vision Testing, 2nd Edition. Eds.: J. Heckenlively and G. Arden. Mosby Year Book Publishers, St. Louis, 2003.
Chapter 79: Juvenile X-linked Retinoschisis.

Sieving PA, Meltzer M, MacDonald I. Gene Reviews: Clinical Genetic Information Resource. June, 2003. GeneReviews (TM) at the GeneTests-GeneClinics Web site. Available at http://www.geneclinics.org (2003-2005).

Sieving PA. Healthy Vision Month - May 2004: focus is on diabetic retinopathy. Optometry. 75:271-273 (2004).

Insel TR, Volkow ND, Landis SC, Li TK, Battey JF, Sieving PA. Limits to growth: why neuroscience needs large-scale science. Nat Neurosci. 7:426-527 (2004).

Sieving PA, MacDonald IM, Trese MT. Congenital X-linked retinoschisis. In: Pediatric Retina: Medical and Surgical Approaches. Eds: M.E. Hartnett, M.T. Trese, A. Capone, et al. Lippincott Williams & Wilkins, Philadelphia. Ch. 25, pp 377-385, 2005.

Musarella MA, MacDonald IM, Sieving, PA. Retinoschisis, Juvenile (X-Linked). In: Encyclopedia of Medical Genomics and Proteomics. Eds: J. Fuchs and M. Podda. Marcel Dekker, Inc., New York. pp 1147-1150, 2005.

Sieving P, Macdonald I, Meltzer MR (updated January 2006) X-Linked Juvenile Retinoschisis in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle. 1997-2006. Available at http://www.genetests.org.

Vijayasarathy C, Takada Y, Zeng Y, Bush RA, Sieving PA. Organization and Molecular Interactions of Retinoschisin in Photoreceptors. In 'Recent Advances in Retinal Degeneration Research.' Eds: R.E. Anderson, M.M. LaVail and J.G. Hollyfield. (In Press). Springer, New York. NY.

Related Pages:

• Curriculum Vitae
• Recent Publications
• Congressional Testimony
• Photographs of Dr. Sieving
• News Release: Sieving Named Director, National Eye Institute
• News Release: Three NIH Leaders Elected to Institute of Medicine