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Genetics of Fuchs Corneal Dystrophy Comes of Age

Genetics of Fuchs Corneal Dystrophy Comes of Age Research Original Investigation Fuchs Endothelial Corneal Dystrophy and TCF4 Triplet Repeat Expansion Invited Commentary Sweet Repeats Olof H. Sundin, PhD Fuchs endothelial corneal dystrophy (FECD) is a degenera- explanation for how CTG nucleotide repeats cause disease. tive disorder that affects 5% of those older than 40 years and When such triplet repeats are expressed as RNA precursors, is the leading indication for corneal transplantation. The first these can accumulate in the nucleus and interfere with the sign of FECD is the presence function of small RNAs required for splicing. A similar mecha- of microscopic refractile gran- nism appears involved in a group of neurodegenerative dis- Related article page 1386 ules in the Descemet mem- eases that includes myotonic dystrophy, fragile X–associated brane that increase in number as the disease progresses. In ad- tremor/ataxia syndrome, and C9orf72-associated amyo- 2,7 dition, cells of the corneal endothelium undergo a slow and trophic lateral sclerosis. irreversible attrition until late stages of the disease, when the In this issue of JAMA Ophthalmology, Soliman and endothelium finally loses barrier and ion transport func- colleagues demonstrate for the first time that the clinical se- tions. This allows an influx of water into the corneal stroma, verity http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png JAMA Ophthalmology American Medical Association

Genetics of Fuchs Corneal Dystrophy Comes of Age

JAMA Ophthalmology , Volume 133 (12) – Dec 1, 2015

Genetics of Fuchs Corneal Dystrophy Comes of Age

Abstract

Research Original Investigation Fuchs Endothelial Corneal Dystrophy and TCF4 Triplet Repeat Expansion Invited Commentary Sweet Repeats Olof H. Sundin, PhD Fuchs endothelial corneal dystrophy (FECD) is a degenera- explanation for how CTG nucleotide repeats cause disease. tive disorder that affects 5% of those older than 40 years and When such triplet repeats are expressed as RNA precursors, is the leading indication for corneal transplantation. The first these can accumulate in the nucleus and...
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Publisher
American Medical Association
Copyright
Copyright 2015 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.
ISSN
2168-6165
eISSN
2168-6173
DOI
10.1001/jamaophthalmol.2015.3445
pmid
26402556
Publisher site
See Article on Publisher Site

Abstract

Research Original Investigation Fuchs Endothelial Corneal Dystrophy and TCF4 Triplet Repeat Expansion Invited Commentary Sweet Repeats Olof H. Sundin, PhD Fuchs endothelial corneal dystrophy (FECD) is a degenera- explanation for how CTG nucleotide repeats cause disease. tive disorder that affects 5% of those older than 40 years and When such triplet repeats are expressed as RNA precursors, is the leading indication for corneal transplantation. The first these can accumulate in the nucleus and interfere with the sign of FECD is the presence function of small RNAs required for splicing. A similar mecha- of microscopic refractile gran- nism appears involved in a group of neurodegenerative dis- Related article page 1386 ules in the Descemet mem- eases that includes myotonic dystrophy, fragile X–associated brane that increase in number as the disease progresses. In ad- tremor/ataxia syndrome, and C9orf72-associated amyo- 2,7 dition, cells of the corneal endothelium undergo a slow and trophic lateral sclerosis. irreversible attrition until late stages of the disease, when the In this issue of JAMA Ophthalmology, Soliman and endothelium finally loses barrier and ion transport func- colleagues demonstrate for the first time that the clinical se- tions. This allows an influx of water into the corneal stroma, verity

Journal

JAMA OphthalmologyAmerican Medical Association

Published: Dec 1, 2015

References