Leber congenital amaurosis 14

Common Name(s)

Leber congenital amaurosis 14

Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa ({2:Gu et al., 1997}). For a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 ({204000}); for retinitis pigmentosa, see {268000}.
 

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Condition Specific Organizations

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Scientific Literature

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