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Leber congenital amaurosis 7

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Description

Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009). For a general description and a discussion of genetic heterogeneity of LCA, see 204000.

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

188

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Genes

External Links

  • OMIM

    613829

  • Orphanet
  • HPO
  • Medgen

    C3151192

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