Open AccessGenetic testing for retinitis punctata albescens/fundus albipunctatus
Author(s) -
Andi Abeshi,
Pamela Coppola,
Tommaso Beccari,
Munis Dündar,
Fabiana D’Esposito,
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/s1.30
Subject(s) - retinitis , genetic testing , fundus (uterus) , optical coherence tomography , medicine , ophthalmology , biology , genetics , gene , human cytomegalovirus
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for retinitis punctata albescens/fundus albipunctatus (RPA/FA). RPA and FA are reported to have autosomal dominant or autosomal recessive inheritance and are associated with variations in the PRPH2, RHO, RLBP1 and RDH5 genes. There is insufficient data to establish their prevalence. Clinical diagnosis is based on clinical findings, ophthalmological examination, optical coherence tomography, visual field testing and undetectable or severely reduced electroretinogram amplitudes. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.