Article
An unusual retinal vascular morphology in connection with a novel AIPL1 mutation in Leber's congenital amaurosis.
The British journal of ophthalmology - 1 Aug 2003
Heegaard S, Rosenberg T, Preising M, Prause J U, Bek T
Abstract excerpt
AIMS: To report a case of an unusual retinal vascular morphology in connection with a novel AIPL1 mutation in a patient with Leber's congenital amaurosis (LCA). METHODS: A patient with LCA and no light perception from birth had both eyes enucleated at the age of 22 years because of excruciating pain. Mutation analysis was performed on known LCA genes. The eyes were processed for casts of the vascular tree,...
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