1. bookVolume 1 (2017): Issue s1 (October 2017)
    EBTNA Utility Gene Test on Ophthalmology
Journal Details
License
Format
Journal
eISSN
2564-615X
First Published
30 Jan 2017
Publication timeframe
4 times per year
Languages
English
access type Open Access

Genetic testing for Best vitelliform macular dystrophy

Published Online: 27 Oct 2017
Volume & Issue: Volume 1 (2017) - Issue s1 (October 2017) - EBTNA Utility Gene Test on Ophthalmology
Page range: 17 - 19
Journal Details
License
Format
Journal
eISSN
2564-615X
First Published
30 Jan 2017
Publication timeframe
4 times per year
Languages
English
Abstract

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for Best vitelliform macular dystrophy (BVMD). BVMD is mostly inherited in an autosomal dominant manner (autosomal recessive transmission is rare). The overall prevalence is currently unknown. BVMD is caused by mutations in the BEST1 gene. 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.

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