Open AccessGenetic testing for Mendelian myopia
Author(s) -
Andi Abeshi,
Pamela Coppola,
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/s1.23
Subject(s) - mendelian inheritance , omim : online mendelian inheritance in man , genetic testing , differential diagnosis , medicine , disease , clinical diagnosis , transmission (telecommunications) , family history , clinical history , genetics , gene , pediatrics , biology , pathology , phenotype , computer science , telecommunications
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Mendelian myopia (MM), a large and heterogeneous group of inherited refraction disorders. Variations in the SLC39A5, SCO2 and COL2A1 genes have an autosomal dominant transmission, whereas those in the LRPAP1, P3H2, LRP2 and SLITRK6 genes have autosomal recessive transmission. The prevalence of MM is currently unknown. Clinical diagnosis is based on clinical findings, family history, ophthalmological examination and other tests depending on complications. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.