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GTR Home > Conditions/Phenotypes > Leber congenital amaurosis 6

Leber congenital amaurosis 6

Synonyms
RPGRIP1-Related Leber Congenital Amaurosis

Summary

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. [from OMIM]

Available tests

46 tests are in the database for this condition.

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Clinical tests (46 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CORD13, LCA6, RGI1, RGRIP, RPGRIP, RPGRIP1d, RPGRIP1
    Summary: RPGR interacting protein 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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