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GTR Home > Conditions/Phenotypes > Leber congenital amaurosis 4

Leber congenital amaurosis 4

Synonyms
AIPL1-Related Leber Congenital Amaurosis; Amaurosis congenita of Leber, type 4

Summary

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 (LCA), whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (Gu et al., 1997). Various intermediate phenotypes between LCA and retinitis pigmentosa are known and are sometimes described as 'early-onset severe rod-cone dystrophy' or 'early-onset retinal degeneration' (Booij et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 (204000); for retinitis pigmentosa, see 268000; for cone-rod dystrophy, see 120970. [from OMIM]

Available tests

51 tests are in the database for this condition.

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Clinical tests (51 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AIPL2, LCA4, AIPL1
    Summary: AIP like 1 HSP90 co-chaperone

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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