Term Name:	Leber congenital amaurosis 1
Synonyms:	amaurosis congenita of Leber I, LCA1
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.
Ontology:	Human Disease [DOID:0110078]   ( DOID:0110078 )