Abstract
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Leber congenital amaurosis (LCA). LCA is mostly inherited in an autosomal recessive manner, rarely in an autosomal dominant manner, with an overall prevalence of 2-3/100,000 live births, and is caused by mutations in the AIPL1, CEP290, CRB1, CRX, GDF6, GUCY2D, IFT140, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, NMNAT1, RD3, RDH12, RPE65, RPGRIP1, SPATA7 and TULP1 genes. Clinical diagnosis involves ophthalmological examination and electrophysiological testing (electroretinography - ERG). The genetic test is useful for confirmation of diagnosis, differential diagnosis, couple risk assessment and access to clinical trials.