Thirty-year follow-up of a patient with leber congenital amaurosis and novel RPE65 mutations.


PURPOSE To present long-term follow-up on a North American patient with Leber congenital amaurosis (LCA) and novel compound heterozygous mutations in the RPE65 gene. DESIGN Case report. METHODS RPE65 mutation screening and search for sequence changes using Single Strand Conformation Polymorphism and direct DNA sequencing. Ophthalmic examination and… (More)


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