Open AccessGenetic testing for gyrate atrophy of the choroid and retina
Author(s) -
Andi Abeshi,
Francesca Fanelli,
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/s1.17
Subject(s) - choroid , electroretinography , retina , genetic testing , atrophy , ophthalmology , medicine , pathology , differential diagnosis , biology , neuroscience
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for gyrate atrophy of the choroid and retina (GACR). GACR is inherited in an autosomal recessive manner, and has a prevalence of 1/50000 in Finland. In the international literature there are approximately 200 biochemically confirmed cases. GACR is caused by mutations in the OAT gene. Clinical diagnosis involves ophthalmological examination, electrophysiological testing (electroretinography - ERG), coherence tomography and assay of ornithine levels in body fluids. The genetic test is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.