Human genes for Leber congenital amaurosis 4
Leber congenital amaurosis 4 [DOID:0110332]
A Leber congenital amaurosis that is characterized by a relatively severe phenotype, with maculopathy and marked bone-spicule pigmentary retinopathy in most and keratoconus and cataract in a large subset and that has_material_basis_in mutation in the AIPL1 gene on chromosome 17p13.
Synonyms: Leber congenital amaurosis 4, DOID:0110332, LCA4