A Genetic Study of Macular Degeneration

Principal Investigator

Richard B. Rosen, M.D.

Enrollment Status

Currently Enrolling Participants


To correlate the genotypic make-up with the disease phenotype in rare ophthalmic diseases. Genes and diseases currently being tested:

Aniridia, Axenfeld-Rieger Syndrome, Best Disease, Congential Cranial Dysinnervation Diseases (CCDD), Choroideremia, Cone Rod Dystrophy, Congenital Stationary Night Blindness, Corneal Anterior Stromal Dystrophies, Meesman’s Epithelial Dystrophy, Bietti’s Crystalline Corneal-Retinal Dystrophy, Soyne Honeycomb Dystrophy, Familial Exudative Vitreal Retinopathy, Glaucoma, Infantile Neuroaxonal Dystrophy (INAD), Optic Atrophy, Pattern Dystrophy, Pantothenate Kinase-associated Neuropathy (PKAN), Juvenile X-linked Retinoschisis, Retinitis Pigmentosa (RP) and Retinal Degenerations, Retinoblastoma, Sorsby Fundus Dystrophy, Stargardt Disease.


Please contact the study manager.

Contact Information

Katy Tai, 212-979-4251


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