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GTR Home > Conditions/Phenotypes > Leber congenital amaurosis 19

Leber congenital amaurosis 19

Summary

Leber congenital amaurosis-19 (LCA19) is characterized by reduced vision in early childhood and severely reduced responses of both rods and cones on electroretinography (Yi et al., 2019). For a general description and a discussion of genetic heterogeneity of LCA, see 204000. [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: LCA19, USP45
    Summary: ubiquitin specific peptidase 45

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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