Leber congenital amaurosis 1 (DOID:0110078)
Alliance: disease page
Synonyms: amaurosis congenita of Leber I; LCA1
Alt IDs: OMIM:204000, ICD10CM:H35.5
Definition: A Leber congenital amaurosis characterized by severe cone-rod dystrophy with photophobia, high hyperopia, and poor but stable vision with no visual improvement and that has_material_basis_in mutation in the GUCY2D gene on chromosome 17p13.