Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier11None of the authors has a financial interest relating to this article.

Craig, Jamie E; Baird, Paul N.; Healey, Danielle L.; McNaught, Andrew; McCartney, Paul J.; Rait, Julian L; Dickinson, Joanne L.; Roe, Lynne; Fingert, John H.; Stone, Edwin M.; Mackey, David A.

doi:10.1016/s0161-6420(01)00654-6

Cited by 99 publications

(73 citation statements)

References 17 publications

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“…Although a number of reports have shown that subjects with JOAG respond poorly to medical treatment and generally require surgical interventions, 33,34 a study by Graul et al 35 has shown that POAG patients with a GLN368STOP myocilin mutation have similar rates of laser trabeculoplasty and surgery as POAG patients with no myocilin mutations. However, another study by Craig et al 36 reported that glaucoma patients with GLN368STOP mutations had increased rates of filtration surgery compared with patients with no myocilin mutations.…”

Section: Myocilin (Myoc Omim #601652)mentioning

confidence: 98%

Primary open-angle glaucoma genes

Fingert

2011

Eye

193

175

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A substantial fraction of glaucoma has a genetic basis. About 5% of primary open angle glaucoma (POAG) is currently attributed to single-gene or Mendelian forms of glaucoma (ie glaucoma caused by mutations in myocilin or optineurin). Mutations in these genes have a high likelihood of leading to glaucoma and are rarely seen in normal subjects. Other cases of POAG have a more complex genetic basis and are caused by the combined effects of many genetic and environmental risk factors, each of which do not act alone to cause glaucoma. These factors are more frequently detected in patients with POAG, but are also commonly observed in normal subjects. Additional genes that may be important in glaucoma pathogenesis have been investigated using quantitative traits approaches. Such studies have begun to identify genes that control the magnitude of important quantitative features of glaucoma that may also be important risk factors for POAG, such as central corneal thickness. Each of these different approaches to study glaucoma genetics is providing new insights into the pathogenesis of POAG.

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Section: Myocilin (Myoc Omim #601652)mentioning

confidence: 98%

Primary open-angle glaucoma genes

Fingert

2011

Eye

193

175

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“…54 On the basis of the age of onset for glaucoma, IOP values, and treatment needs, it seems there is a correlation between risk grade and patient's phenotype. The Gln368Stop mutation confers mild risk, 55 Thr377Met and Gly252Arg mutations intermediate risk, 56,57 and the Pro370Leu mutation severe risk. [58][59][60][61] …”

Section: Genetic Loci and Glaucoma-associated Genesmentioning

confidence: 99%

Current concepts on primary open-angle glaucoma genetics: a contribution to disease pathophysiology and future treatment

Gemenetzi

Yang

Lotery

2011

Eye

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“…The age-related penetrance of 50% at 30 and nearly 80% at 40 is comparable to other MYOC mutations, for example, Cys433Arg and Asn480Lys. 24,25 So far, all reported MYOC mutations have incomplete penetrance at 30, with Thr377Met resulting in the highest 26 and Gln368STOP in the lowest 22,27 age of onset.…”

Section: Discussionmentioning

confidence: 99%

Glaucoma phenotype in a large Swiss pedigree with the myocilin Gly367Arg mutation

Iliev

Bodmer

Gallati

et al. 2007

Eye

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Aims To characterize genotype, phenotype, and age-related penetrance in a Swiss pedigree with juvenile open-angle glaucoma (JOAG). Methods In a large Swiss family with history of glaucoma and 82 living members of four generations, we conducted molecular analysis and a detailed phenotype characterization in 52 family members. Mutation analysis was carried out using single-strand conformation polymorphism and DNA sequence analyses of the suspected candidate gene, myocilin (MYOC). Results We detected a Gly367Arg mutation in the MYOC gene of 13 family members. Nine of them (69.2%) had glaucoma: mean IOP 35.3 mm Hg, range 24-50 mm Hg; mean age at diagnosis 34.9 years, range 28-51 years. Two mutation carriers were glaucoma suspects, one (age 15) was unaffected, and one (age 16) not available for clinical examinations. Agerelated glaucoma penetrance was 50% at 30 and 78% at 40. Untreated IOP resulted in rapid disease progression, whereas good IOP control, usually only by means of filtration surgery, could stabilize the disease. None of the wild-type members had glaucoma. Conclusions This Swiss family is the largest reported Gly367Arg pedigree to date. The exact genotype and phenotype characterization allowed a reliable risk and prognosis assessment and targeted eye-care planning for the family. The study demonstrates the importance of genetic investigations in glaucoma families, carrying the potential of long-term socio-economic benefits.

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Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier11None of the authors has a financial interest relating to this article.

Cited by 99 publications

References 17 publications

Primary open-angle glaucoma genes

Primary open-angle glaucoma genes

Current concepts on primary open-angle glaucoma genetics: a contribution to disease pathophysiology and future treatment

Glaucoma phenotype in a large Swiss pedigree with the myocilin Gly367Arg mutation

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