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Seamans-Hauser Chair in Molecular OphthalmologyDirector, Molecular Ophthalmology LaboratoryDirector, Carver Family Center for Macular DegenerationDirector, Carver Nonprofit Genetic Testing LaboratoryDirector, Wynn Institute for Vision ResearchProfessor of Ophthalmology and Visual Sciences
Primary Office: 4111 MERFIowa City, IA 52242
Email: firstname.lastname@example.orgWeb: The Wynn Institute for Vision ResearchWeb: UI Clinical Profile
BA, Biology and English, Rice UniversityPhD, Cell Biology, Baylor College of MedicineMD, Baylor College of Medicine
Internship, Transitional, St. Joseph Hospital, HoustonFellowship, Associate, Ophthalmology, The University of IowaResidency, Ophthalmology, The University of IowaFellowship, Ophthalmology Research, The University of IowaFellowship, Vitreoretinal Surgery, The University of Iowa
Iowa Medical License, Iowa Board of Medical ExaminersNBME Diplomate, National Board of Medical ExaminersABO Certification, American Board of Ophthalmology
Interdisciplinary Graduate Program in GeneticsInterdisciplinary Graduate Program in InformaticsInterdisciplinary Graduate Program in NeuroscienceInterdisciplinary Graduate Program in Translational BiomedicineMedical Scientist Training Program
My research seeks to understand how small variations in the genes of human beings can result in large variations in their vision. I am especially interested in finding and characterizing genes that are involved in three classes of human eye disease: macular degeneration, glaucoma, and heritable photoreceptor degeneration. I am also very interested in strategies for bringing new genetic discoveries to the clinic as rapidly as possible and in so doing I have been very active in removing the technical, legal and financial barriers between genetic discoveries and the patients who could benefit from them by creating a nonprofit genetic testing laboratory that provides low cost clinical genetic tests for more than 20 different inherited eye diseases on an international scale.
I am a fellowship-trained vitreoretinal surgeon with a special interest in hereditary diseases of the retina. I am the director of the Institute for Vision Research which includes 26 faculty and 125 staff.
I and my collaborators at the University of Iowa, have mapped and/or cloned dozens of human disease genes including: three glaucoma genes (MYOC, FOXC1, and familial cavitary optic disk anomaly), five genes for macular disease (Best disease, pattern dystrophy, Stargardt-like dominant macular dystrophy, malattia Leventinese, and fibulin-5-associated age-related macular degeneration), dominant stromal corneal dystrophy, Wagner disease, erosive vitreoretinopathy, the enhanced S cone syndrome, and achromatopsia.
I have collected over 50,000 DNA samples from patients with various inherited eye diseases and have developed high-throughput methods for screening these patients for disease-causing mutations in candidate genes.
Carver Family Center for Macular DegenerationJohn and Marcia Carver Nonprofit Genetic Testing LaboratoryStephen A. Wynn Institute for Vision Research
North Carolina macular dystrophy is caused by dysregulation of the retinal transcription factor PRDM13.
64 intervening authors ,
et al .
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
BBS mutations modify phenotypic expression of CEP290-related ciliopathies.
Hum Mol Genet.
CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype.
Inner and Outer Retinal Changes in Retinal Degenerations Associated With ABCA4 Mutations.
Invest Ophthalmol Vis Sci.
Is age-related macular degeneration a microvascular disease? .
Adv Exp Med Biol.
Natural History of Cone Disease in the Murine Model of Leber Congenital Amaurosis Due to CEP290 Mutation: Determining the Timing and Expectation of Therapy.
Photoreceptor cells with profound structural deficits can support useful vision in mice.
Invest Ophthalmol Vis Sci.
Resolution of mid-peripheral schisis in x-linked retinoschisis with the use of dorzolamide.
Stem Cells for Investigation and Treatment of Inherited Retinal Disease.
Hum Mol Genet.
Date Last Modified: 10/13/2016 -
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