Macular Degeneration
Mapped the genes for Best's disease, Stargardt-like dominant macular dystrophy, and Mallatia Leventinese, and identifed specific disease-causing mutations in the retinal degeneration slow (rds) gene responsible for a subset of pattern dystrophy.
Identified over 60 different disease-causing mutations in the rhodopsin and rds genes.
Mapped the first glaucoma gene and identified disease-causing mutations in the TIGR gene.
Mapped three different genes for the Bardet-Biedl Syndrome.
Mapped the genes for lattice, granular, avellino, and posterior polymorphous dystrophies, the first three of which map to the same locus on chromosome 5.
Mapped the gene for Wagner disease and Erosive vitreoretinopathy to the same locus on chromosome 5 and identified multiple mutations in the procollagen II gene responsible for Stickler's syndrome.
Mapped the gene for autosomal dominant neovascular inflammatory vitreoretinopathy, a form of inherited uveitis and neovascularization.
Identified mutations in patients with Leber's Hereditary Optic Neuropathy.
