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Metadata
ID DOID:0110078
Name Leber congenital amaurosis 1
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.
https://www.ncbi.nlm.nih.gov/pubmed/8944027
Xrefs

ICD10CM:H35.5

OMIM:204000

Synonyms

amaurosis congenita of Leber I [EXACT]

LCA1 [EXACT]

Parent Relationships

is_a Leber congenital amaurosis

is_a autosomal recessive disease

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