Open AccessGenetic testing for Doyne honeycomb retinal dystrophy
Author(s) -
Andi Abeshi,
Pamela Coppola,
Tommaso Beccari,
Munis Dündar,
Lucia Ziccardi,
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/s1.14
Subject(s) - genetic testing , dystrophy , medicine , optical coherence tomography , fluorescein angiography , electroretinography , retinal , ophthalmology , differential diagnosis , disease , inheritance (genetic algorithm) , clinical trial , optometry , pathology , biology , genetics , gene
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Doyne honeycomb retinal dystrophy (DHRD). The disease has an autosomal dominant inheritance and is caused by variations in the EFEMP1 gene. There is insufficient data to establish the prevalence of DHRD. Clinical diagnosis is based on clinical findings, ophthalmological examination, electroretinography, fluorescein angiography and optical coherence tomography. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.