Open AccessGenetic testing for Bietti crystalline dystrophy
Author(s) -
Andi Abeshi,
Alice Bruson,
Tommaso Beccari,
Munis Dündar,
Lucia Ziccardi,
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/s1.06
Subject(s) - genetic testing , dystrophy , disease , differential diagnosis , optical coherence tomography , medicine , clinical diagnosis , optometry , ophthalmology , pathology , pediatrics
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for Bietti crystalline dystrophy (BCD). The disease has autosomal recessive inheritance, a prevalence of 1 per 67 000, and is caused by mutations in the CYP4V2 gene. Clinical diagnosis is based on clinical findings, ophthalmological examination, electroretinography and optical coherence tomography. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.