Low prevalence of MYOC mutations in UK primary open-angle glaucoma patients limits the utility of genetic testing

Aldred, Micheala A.; Baumber, L; Hill, A; Schwalbe, Ed C.; Goh, K; Karwatowski, W S S; Trembath, Richard

doi:10.1016/j.ajo.2004.12.038

Cited by 8 publications

(8 citation statements)

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“…This genetic form of glaucoma is typically associated with high intraocular pressures and frequently requires surgical intervention for disease control. In adult POAG populations, the prevalence of myocilin mutations in POAG cases varies between 3 and 5% making it the most common form of inherited glaucoma currently known (Aldred et al, 2004;Alward et al, 1998;Baird et al, 2005b;Chakrabarti et al, 2005;Challa et al, 2002;Fingert et al, 1999;Hulsman et al, 2002;Jansson et al, 2003;Libby et al, 2005;Mukhopadhyay et al, 2002;Shimizu et al, 2000;Sripriya et al, 2004).…”

Section: Myocilinmentioning

confidence: 99%

The genetics of primary open-angle glaucoma: A review

Allingham¹,

Liu²,

Rhee³

2009

Experimental Eye Research

181

149

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Glaucoma is the major cause of irreversible blindness worldwide. Primary open-angle glaucoma (POAG), as the most prevalent form of glaucoma, is a complex inherited disorder and affects more than 2 million individuals in the United States. It has become increasingly clear that a host of genetic as well as environmental factors are likely to contribute to the phenotype. A number of chromosomal and genetic associations have been reported for POAG. This review examines what is currently known about the underlying genetic structure, what remains to be learned, and how this may affect our medical management of this major blinding disease.

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Section: Myocilinmentioning

confidence: 99%

The genetics of primary open-angle glaucoma: A review

Allingham¹,

Liu²,

Rhee³

2009

Experimental Eye Research

181

149

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“…Currently it is not cost‐effective to conduct population‐based screening for MYOC mutations which have a prevalence of approximately 4% in adult onset POAG and over 10% in JOAG 61,71 . However, the efficacy for genetic screening will increase when conducting comprehensive combined screen of many POAG genes and as the cost of genetic tests decreases markedly because of technological advances.…”

Section: Myocilin‐related Glaucomamentioning

confidence: 99%

Complex genetics of complex traits: the case of primary open‐angle glaucoma

Hewitt

Craig

Mackey

2006

Clinical Exper Ophthalmology

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Glaucoma, which is a complex heterogeneous disease, presents an ideal case for genetic investigation. Primary open-angle glaucoma (POAG) is the commonest subtype and will be the focus of this review. When detected early, POAG is amenable to therapeutic intervention. Unfortunately, current population-based clinical screening lacks efficacy. If individuals with a genetic predisposition for developing POAG can be identified, then efficient and cost-effective population-based screening programs could be designed. Although considerable inroads have been made in understanding the natural history of POAG caused by mutations in the myocilin and optineurin genes, other POAG genes accounting for most cases remain to be identified. This review explores the genetic mechanisms that have been unequivocally linked to the glaucomatous process and then discusses potential avenues for future breakthroughs.

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“…However, a number of other genes remain to be identified. [28][29][30][31] Although population-based screening is not currently costeffective, 32 it is possible to perform cascade screening, where the offspring and siblings of index mutation-carrying patients are screened for the mutation. We have recently demonstrated that genetic testing in "myocilin glaucoma" is perceived to be appropriate and desirable by both patients and their families.…”

Section: Commentmentioning

confidence: 99%

Disease Severity of Familial Glaucoma Compared With Sporadic Glaucoma

Hewitt²,

Green³

et al. 2006

Arch Ophthalmol

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To determine whether there is a difference in disease severity between familial and sporadic primary open-angle glaucoma (POAG). Methods: A cross-sectional study design compared the distribution of Glaucoma Inheritance Study in Tasmania (GIST) severity scores of patients with genealogically confirmed familial POAG and those with sporadic POAG. The GIST severity scores provide a combined weighting of glaucoma severity based on findings from visual field defects and optic disc analysis, with and without intraocular pressure. A Poisson regression analysis, t test, and 2 tests were performed. Results: One thousand twelve (59.5%) of 1700 subjects had familial glaucoma. The mean ± SD age at examination was greater in the sporadic POAG group compared with the familial group (72.6±10.3 years vs 70.6 ± 12.6 years; P = .001). The family group was significantly younger at diagnosis than the sporadic group (mean ± SD, 61.4 ± 13.0 years vs 64.0 ± 12.6 years; PϽ.001). The GIST severity scores were significantly skewed toward greater disease severity in the familial group compared with the sporadic group (PϽ.001). Conclusion: Identifying individuals at risk of severe POAG will be more successful if screening programs are developed with appropriate weighting toward those with a positive family history of the disease.

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Low prevalence of MYOC mutations in UK primary open-angle glaucoma patients limits the utility of genetic testing

Cited by 8 publications

References 0 publications

The genetics of primary open-angle glaucoma: A review

The genetics of primary open-angle glaucoma: A review

Complex genetics of complex traits: the case of primary open‐angle glaucoma

Disease Severity of Familial Glaucoma Compared With Sporadic Glaucoma

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