Purpose: To determine whether primary open-angle glaucoma (POAG) and ocular hypertensive (OHT) patients who harbor the myocilin Gln368Stop mutation differ in phenotype or clinical course from patients without the mutation.
Design: Case-control study.
Methods: A retrospective case-control study compared all known POAG patients (n = 18) and OHT patients (n = 4) harboring the Gln368Stop mutation evaluated by the University of Iowa Glaucoma Service with control patients from the same population. Patients and control subjects were matched for diagnosis, age, sex, and race and were compared for phenotype and clinical course.
Results: Mean age of disease onset and mean peak intraocular pressures (IOPs) of cases were similar to those reported by other studies. There was no statistically significant difference between cases and controls for the following variables: age at onset, peak intraocular pressure, Snellen visual acuity, number of medications, Humphrey visual field (HVF) mean deviation, HVF pattern deviation, number of filtering surgeries performed, time intervals from diagnosis to argon laser trabeculoplasty (ALT), diagnosis to first filtering surgery, ALT to first filtering surgery, and percent change in IOP after ALT and after first filtering surgery.
Conclusions: There is no statistically significant difference between the onset and clinical course of POAG and OHT caused by the Gln368Stop mutation and POAG and OHT not associated with the mutation.
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Evaluation of the Myocilin Mutation Gln368Stop Demonstrates Reduced Penetrance for Glaucoma in European Populations.
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Department of Twin Research and Genetic Epidemiology, King's College London, St. Thomas' Hospital, London, United Kingdom; Department of Ophthalmology, King's College London, London, United Kingdom. Electronic address:
Article Synopsis
- - The study investigates the MYOC gene mutation (Gln368Stop), which is linked to 2-4% of glaucoma cases by raising intraocular pressure (IOP), using data from large European cohorts (TwinsUK and Rotterdam Study).
- - Researchers assessed the presence of this mutation in participants and measured the penetrance, finding 12.5% in TwinsUK and 19.4% in the Rotterdam Study, indicating lower than expected rates of high IOP associated with the mutation.
- - The findings suggest many more healthy individuals carry this mutation than previously thought, which questions its effectiveness as a screening tool for glaucoma risk.
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January 2015
Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago College of Medicine, Chicago, Illinois, United States of America.
Background: Myocilin (MYOC) is a gene linked directly to juvenile- and adult-onset open angle glaucoma. Mutations including Pro370Leu (P370L) and Gln368stop (Q368X) have been identified in patients. In the present study, we investigated the processing of myocilin in human trabecular meshwork (TM) cells as well as in inducible, stable RGC5 cell lines.
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Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye & Ear Hospital, East Melbourne, Australia.
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Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia.
Purpose: Primary open angle glaucoma (POAG) is a complex heterogeneous disease. The aim of this study was to describe the POAG phenotype in individuals who harbour the novel GLC1L disease-associated haplotype in a large pedigree where the Myocilin Gln368STOP mutation also segregates.
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