ArticleHuman genetics2004
Low prevalence of MYOC mutations in UK primary open-angle glaucoma patients limits the utility of genetic testing.
Article in Human genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 31 citations in OpenAlex.
- Protein misfolding and mitochondrial dysfunction in glaucoma.Frontiers in cell and developmental biology · 2025Review
- Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project.BMC genomics · 2024Article
- Glaucoma Animal Models beyond Chronic IOP Increase.International journal of molecular sciences · 2024Review
- Myocilin misfolding and glaucoma: A 20-year update.Progress in retinal and eye research · 2023Review
- Amyloid fibrillation of the glaucoma associated myocilin protein is inhibited by epicatechin gallate (ECG).RSC advances · 2022Article
- Myocilin-associated Glaucoma: A Historical Perspective and Recent Research Progress.Molecular vision · 2021Review
- Clinical Characteristics of Juvenile-onset Open Angle Glaucoma.Korean journal of ophthalmology : KJO · 2016Article
- Neurodegeneration and Neuroprotection in Glaucoma.The Yale journal of biology and medicine · 2016Review
- Myocilin mutations among POAG patients from two populations of Tamil Nadu, South India, a comparative analysis.Molecular vision · 2011Article
- The genetics of primary open-angle glaucoma: a review.Experimental eye research · 2009Review
- Primary open-angle glaucoma.The New England journal of medicine · 2009Review
- Two novel myocilin mutations in a Chinese family with primary open-angle glaucoma.Molecular vision · 2008Article
- Screening of common CYP1B1 mutations in Iranian POAG patients using a microarray-based PrASE protocol.Molecular vision · 2008Article
- Myocilin mutations among primary open angle glaucoma patients of Kanyakumari district, South India.Molecular vision · 2007Article
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary open angle glaucoma (POAG) affects 1% of people over age 40. Early detection and treatment can prevent blindness, but the disease is often asymptomatic until a late stage. Positive family history is an important risk factor and previous studies indicate that approximately 5% of POAG results from mutations in the myocilin ( MYOC) gene, raising the possibility of identifying individuals genetically predisposed to glaucoma. We collected DNA samples from 426 unselected UK POAG patients and analyzed them for MYOC mutations. The Q368X mutation was found in six patients (1.4%). No other mutations were identified, suggesting that amongst patients unselected for family history, the prevalence of MYOC mutations in the UK is lower than in other populations. Genetic and glaucoma screening was offered to first-degree relatives of these six probands (group 1) and of age/sex-matched mutation-negative controls (group 2). Of 11 group-1 relatives, three carried Q368X, one of whom already had glaucoma. Notably, of the 13 relatives in both groups who were mutation negative, one was already being treated for ocular hypertension. We therefore caution against changing glaucoma surveillance regimens in such individuals and suggest that routine untargeted genetic testing for MYOC mutations in patients with POAG would be of limited value until additional significant genetic risk factors are identified.
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