Leber congenital amaurosis 10
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Sign InDescription
Leber congenital amaurosis is a severe retinal dystrophy, causing blindness or severe visual impairment at birth or during the first months of life (summary by den Hollander et al., 2006). For a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 (204000).
Mode of Inheritance
- Autosomal recessive inheritance
VARIANTS
152