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.
For information about carrier frequency and residual risk, please see the residual risk table.