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Clinical phenotypes in carriers of Leber congenital amaurosis mutations

✍ Scribed by Jennifer A. Galvin; Gerald A. Fishman; Edwin M. Stone; Robert K. Koenekoop


Book ID
116803244
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
297 KB
Volume
112
Category
Article
ISSN
0161-6420

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Leber congenital amaurosis (LCA) is the earliest and most severe retinal degeneration. It may present as a congenital stationary cone-rod dystrophy (LCA type I) or a progressive yet severe rod-cone dystrophy (LCA type II). Twelve LCA genes have been identified, three of which account for Type I and