Open AccessGenetic testing for Leber congenital amaurosis
Author(s) -
Andi Abeshi,
Pamela Coppola,
Tommaso Beccari,
Munis Dündar,
Benedetto Falsini,
Matteo Bertelli
Publication year - 2017
Publication title -
the eurobiotech journal
Language(s) - English
Resource type - Journals
ISSN - 2564-615X
DOI - 10.24190/issn2564-615x/2017/s1.20
Subject(s) - rpe65 , gucy2d , electroretinography , genetic testing , medicine , genetics , biology , pediatrics , ophthalmology , gene , retinal , receptor , genetic enhancement , guanylate cyclase , guanylate cyclase 2c
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.