Open AccessGenetic testing for enhanced S-cone syndrome
Author(s) -
Andi Abeshi,
Carlo Marinelli,
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/s1.15
Subject(s) - genetic testing , optical coherence tomography , disease , medicine , differential diagnosis , clinical diagnosis , inheritance (genetic algorithm) , clinical trial , optometry , ophthalmology , pathology , pediatrics , genetics , biology , gene
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for enhanced S-cone syndrome (ESCS). The disease has autosomal recessive inheritance, a prevalence of less than one per million, and is caused by mutations in the NR2E3 gene. Clinical diagnosis is based on clinical findings, ophthalmological examination, electroretinography, color vision testing and optical coherence tomography. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.