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Genetic Testing for Inherited Eye Disease

Genetic Testing for Inherited Eye Disease Opinion VIEWPOINT Who Benefits? New technologies such as next-generation sequenc- Early-Onset Glaucoma JaneyL.Wiggs,MD, PhD ing are rapidly facilitating the discovery of genes respon- Currently, mutations in 6 genes (MYOC, PITX2, FOXC1, Harvard Medical sible for inherited eye disease, an essential step toward PAX6, CYP1B1, and LTBP2) can cause early-onset (either School, Massachusetts the development of clinically useful gene-based diag- congenitalorjuvenile)glaucoma.Whilecollectivelythese Eye and Ear Infirmary, nostic tests (genetic testing) and gene-based thera- genes only account for about 20% of cases of glau- Boston, Massachusetts. pies. In the general guidelines for genetic testing for in- coma with onset before age 40 years, for those indi- Eric A. Pierce, MD, heritedeyedisordersrecentlypublishedbytheAmerican viduals known to have a mutation, the impact on clini- PhD Academy of Ophthalmology Task Force, testing has cal care and genetic counseling can be significant. Harvard Medical been recommended for disorders where the causative Appropriate surveillance and timely treatment of mu- School, Massachusetts genesareknown.Disease-causinggenesarenowknown tation carriers can prevent, or limit, loss of valuable sight Eye and Ear Infirmary, Boston, Massachusetts. for many inherited ocular disorders, making testing pos- in many cases. Detecting mutations in these genes also sible for an increasingly large number of diseases. For identifies the mode of http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png JAMA Ophthalmology American Medical Association

Genetic Testing for Inherited Eye Disease

JAMA Ophthalmology , Volume 131 (10) – Oct 1, 2013

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Publisher
American Medical Association
Copyright
Copyright 2013 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.
ISSN
2168-6165
eISSN
2168-6173
DOI
10.1001/jamaophthalmol.2013.4509
pmid
23949187
Publisher site
See Article on Publisher Site

Abstract

Opinion VIEWPOINT Who Benefits? New technologies such as next-generation sequenc- Early-Onset Glaucoma JaneyL.Wiggs,MD, PhD ing are rapidly facilitating the discovery of genes respon- Currently, mutations in 6 genes (MYOC, PITX2, FOXC1, Harvard Medical sible for inherited eye disease, an essential step toward PAX6, CYP1B1, and LTBP2) can cause early-onset (either School, Massachusetts the development of clinically useful gene-based diag- congenitalorjuvenile)glaucoma.Whilecollectivelythese Eye and Ear Infirmary, nostic tests (genetic testing) and gene-based thera- genes only account for about 20% of cases of glau- Boston, Massachusetts. pies. In the general guidelines for genetic testing for in- coma with onset before age 40 years, for those indi- Eric A. Pierce, MD, heritedeyedisordersrecentlypublishedbytheAmerican viduals known to have a mutation, the impact on clini- PhD Academy of Ophthalmology Task Force, testing has cal care and genetic counseling can be significant. Harvard Medical been recommended for disorders where the causative Appropriate surveillance and timely treatment of mu- School, Massachusetts genesareknown.Disease-causinggenesarenowknown tation carriers can prevent, or limit, loss of valuable sight Eye and Ear Infirmary, Boston, Massachusetts. for many inherited ocular disorders, making testing pos- in many cases. Detecting mutations in these genes also sible for an increasingly large number of diseases. For identifies the mode of

Journal

JAMA OphthalmologyAmerican Medical Association

Published: Oct 1, 2013

References