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.