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