Article
Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: retained photoreceptors adjacent to retinal disorganization.
Molecular vision - 2 Jun 2009
Jacobson Samuel G, Aleman Tomas S, Cideciyan Artur V, Sumaroka Alexander, Schwartz Sharon B, Windsor Elizabeth A M, Swider Malgorzata, Herrera Waldo, Stone Edwin M
Abstract excerpt
PURPOSE: To determine the retinal disease expression in the rare form of Leber congenital amaurosis (LCA) caused by Lebercilin (LCA5) mutation. METHODS: Two young unrelated LCA patients, ages six years (P1) and 25 years (P2) at last visit, both with the same homozygous mutation in the LCA5 gene, were evaluated clinically and with noninvasive studies. En face imaging was performed with near-infrared (NIR)...
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