Description

Leber congenital amaurosis (LCA) is a early onset retinal dystrophy. The prevalence of LCA is 1/50,000 – 1/33,000 live births and accounts for 5% of all retinal dystrophies and 20% of blindness in school age children. LCA is typically an autosomal recessive inherited disease. To date, mutations in genes encoding retina specific proteins have been reported to cause LCA. This includes AIPL1, CEP290, CRB1, CRX, GUCY2D, LCA5, LRAT, IQCB1, RD3, RDH5, RPE65, RPGRIP1, SPATA7.

External Information

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