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Leber congenital amaurosis 10

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Description

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).

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

152

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Genes

External Links

  • OMIM

    611755

  • Orphanet
  • HPO
  • Medgen

    C1857821

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