Open AccessGenetic testing for Stargardt macular dystrophy
Author(s) -
Andi Abeshi,
Alessandra Zulian,
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/s1.33
Subject(s) - abca4 , stargardt disease , genetic testing , macular dystrophy , dystrophy , fluorescein angiography , medicine , optical coherence tomography , ophthalmology , genetics , optometry , biology , pathology , visual acuity , gene , macular degeneration , phenotype
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Stargardt macular dystrophy (STGD). STGD is mostly inherited in an autosomal recessive manner and rarely in an autosomal dominant manner, with an overall prevalence of 1-5 per 10 000 live births. It is caused by variations in the ABCA4, CNGB3, ELOVL4, PRPH2 and PROM1 genes. Clinical diagnosis is based on ophthalmological examination, fluorescein angiography, electroretinography, visual field testing, optical coherence tomography and color testing. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.