Open AccessGenetic testing for pattern dystrophies
Author(s) -
Andi Abeshi,
Pamela Coppola,
Tommaso Beccari,
Munis Dündar,
Maura Di Nicola,
Francesco Viola,
Leonardo Colombo,
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/s1.27
Subject(s) - genetic testing , differential diagnosis , medicine , optical coherence tomography , disease , genetic heterogeneity , pathology , bioinformatics , genetics , biology , ophthalmology , gene , phenotype
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for pattern dystrophies. Pattern dystrophies are mostly inherited in an autosomal dominant manner (autosomal recessive transmission is rare). The overall prevalence is currently unknown. Pattern dystrophies are caused by variations in the BEST1, IMPG1, IMPG2, OTX2, PRPH2 and CTNNA1 genes. Clinical diagnosis is based on clinical findings, ophthalmological examination, optical coherence tomography, electrooculography and electroretinography. The genetic test is useful for confirming diagnosis and for differential diagnosis, couple risk assessment and access to clinical trials.