Term Name:	Leber congenital amaurosis 4
Synonyms:	LCA4
Definition:	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.
Ontology:	Human Disease [DOID:0110332]   ( DOID:0110332 )