Leber congenital amaurosis type 3

Leber congenital amaurosis type 3

An autosomal recessive form of Leber congenital amaurosis, a clinically and genetically heterogeneous group of childhood retinal degenerations (most are autosomal recessive). LCA is the most common genetic cause of congenital visual impairment in infants and children; infants with LCA3 have little or no retinal photoreceptor function.

Molecular pathology
Defects of SPATA7, which encodes a protein involved in retinal function, cause Leber congenital amaurosis type 3.