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||Gene||Guaranteed Exons||Inheritance||Ethnicity||Carrier Frequency||Detection Rate||Residual Risk|
|Leber Congenital Amaurosis 5||LCA5||3-6, 8, 9  (*4)||AR||Worldwide||< 1 in 500||27%||0.00145985401459854|