Leber Congenital Amaurosis 5 (LCA5)

Leber congenital amaurosis 5 is an autosomal recessive, pan-ethnic disease that is caused by pathogenic variants in the gene LCA5. Clinical features include uncontrollable eye movements and loss of vision that begins during infancy. Patients develop a profound loss of vision at an early age. Life expectancy is not decreased, and no genotype-phenotype correlation has been noted.

Disease Name
 GeneGuaranteed Exons 
 Inheritance Ethnicity
 Carrier Frequency
 Detection Rate
Residual Risk

Leber Congenital Amaurosis 5LCA53-6, 8, 9 [9] (*4)ARWorldwide< 1 in 50027%0.00145985401459854