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 Mendelian glaucoma

Published Online: 27 Oct 2017
Volume & Issue: Volume 1 (2017) - Issue s1 (October 2017) - EBTNA Utility Gene Test on Ophthalmology
Page range: 70 - 73
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 genetic testing for Mendelian glaucomas, a large heterogeneous group of inherited disorders, classified according to age of onset as congenital glaucoma, juvenile glaucoma and age-related glaucoma. Variations in the TEK, MYOC, ASB10, NTF4, OPA1, WDR36 and OPTN genes are inherited in an autosomal dominant manner and variations in the CYP1B1 and LTBP2 genes have autosomal recessive inheritance. The prevalence of congenital glaucoma is estimated at 1-9 per 100 000, that of juvenile glaucoma at 1 per 50 000, while there is insufficient data to establish the prevalence of age-related glaucoma. Clinical diagnosis is based on clinical findings, age of onset, family history, ophthalmological examination, intraocular pressure, gonioscopy and fundoscopy. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

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