Open AccessGenetic testing for ocular coloboma
Author(s) -
Andi Abeshi,
Carlo Marinelli,
Tommaso Beccari,
Munis Dündar,
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/s1.09
Subject(s) - genetic testing , fundus (uterus) , coloboma , medicine , pax6 , differential diagnosis , ophthalmology , genetics , biology , pathology , gene , transcription factor
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for ocular coloboma (COI). COI is inherited in an autosomal dominant manner associated with variations in the PAX6, ABCB6 and FZD5 genes and in an autosomal recessive manner associated with variations in the SALL2 gene. Overall prevalence is 1 per 100,000 live births. Clinical diagnosis is based on clinical findings, ophthalmogical examination, family history, fundus examination and electroretinography. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.