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GTR Home > Conditions/Phenotypes > Leber congenital amaurosis 10

Leber congenital amaurosis 10

Synonyms
Amaurosis congenita of Leber, type 10; CEP290-Related Leber Congenital Amaurosis

Summary

Leber congenital amaurosis (LCA) 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). [from OMIM]

Available tests

99 tests are in the database for this condition.

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Clinical tests (99 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: 3H11Ag, BBS14, CT87, JBTS5, LCA10, MKS4, NPHP6, POC3, SLSN6, rd16, CEP290
    Summary: centrosomal protein 290

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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