Increased Risk of Glaucoma in Fuchs Endothelial Corneal Dystrophy Is Independent of TCF4 Trinucleotide Repeat Expansion.
Journal
Cornea
ISSN: 1536-4798
Titre abrégé: Cornea
Pays: United States
ID NLM: 8216186
Informations de publication
Date de publication:
03 Sep 2024
03 Sep 2024
Historique:
received:
01
05
2024
accepted:
24
07
2024
medline:
5
9
2024
pubmed:
5
9
2024
entrez:
4
9
2024
Statut:
aheadofprint
Résumé
The purpose of this study was to determine the prevalence of glaucoma and/or ocular hypertension (G/OHTN) in patients with Fuchs endothelial corneal dystrophy (FECD) and correlate with FECD severity and TCF4 cytosine-thymine-guanine18.1 (CTG18.1) trinucleotide repeat expansion genotype. We included 167 FECD probands and 110 controls from the University of Texas Southwestern Medical Center FECD Genetics Study to estimate the association between FECD and G/OHTN. Participants underwent slit-lamp microscopy for the assessment of Krachmer grade disease severity of FECD. The diagnosis of G/OHTN was ascertained using a patient-reported history of G/OHTN, previous glaucoma surgery and/or glaucoma laser procedure, and use of glaucoma drops. Genomic DNA from blood of participants was used to genotype the CTG18.1 repeat polymorphism by fragment analysis using short tandem repeat and triplet repeat primed polymerase chain reaction assays. We observed a 19.2% prevalence of G/OHTN in the FECD probands compared with that of 7.3% in controls. The odds ratio of developing G/OHTN in FECD cases compared with controls was estimated to be 3.34 with a 95% confidence interval of 1.42-7.79 adjusting for age and sex. Among FECD cases, the likelihood of developing G/OHTN correlated positively with Krachmer grade (P = 0.043) and age (P = 0.026). There was no statistical difference of the proportions of patients developing G/OHTN between FECD cases with and without TCF4 CTG18.1 repeat expansion (16 out of 94 and 15 out of 72, respectively, P > 0.05). Patients with clinically significant FECD should be routinely monitored for the development of glaucoma regardless of their TCF4 repeat expansion genotype.
Identifiants
pubmed: 39231626
doi: 10.1097/ICO.0000000000003695
pii: 00003226-990000000-00678
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : NEI NIH HHS
ID : R01EY022161
Pays : United States
Organisme : NEI NIH HHS
ID : P30EY030413
Pays : United States
Organisme : Research to Prevent Blindness
ID : Challenge Grant
Informations de copyright
Copyright © 2024 The Author(s). Published by Wolters Kluwer Health, Inc.
Déclaration de conflit d'intérêts
V. V. Mootha is coinventor on patent application related to treatments and biomarkers for Fuchs' dystrophy. The remaining authors have no conflicts of interest to disclose.
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