Quigley (1993) reviewed adult-onset primary open angle glaucoma, which combines a particular abnormal appearance of the optic disc (optic nerve head) with a slowly progressive loss of visual sensitivity. Many patients with glaucoma have intraocular pressures above the ... Quigley (1993) reviewed adult-onset primary open angle glaucoma, which combines a particular abnormal appearance of the optic disc (optic nerve head) with a slowly progressive loss of visual sensitivity. Many patients with glaucoma have intraocular pressures above the normal range, although this cannot be considered part of the definition of the disease, since some patients have normal intraocular pressures. Changes in the optic disc, either inherited or acquired, contribute to the development of the disorder, which leads to visual loss from increasing nerve fiber layer atrophy. Quigley et al. (1994) stated that POAG should be reviewed as a multifactorial disorder. - Genetic Heterogeneity of Primary Open Angle Glaucoma Other forms of primary open angle glaucoma include GLC1A (137750), caused by mutation in the MYOC gene (601652) on chromosome 1q24.3-q25.2; GLC1B (606689) on chromosome 2cen-q13; GLC1C (601682) on chromosome 3q21-q24; GLC1D (602429) on chromosome 8q23; GLC1F (603383), caused by mutation in the ASB10 gene on chromosome 7q36; GLC1G (609887), caused by mutation in the WDR36 gene (609669) on chromosome 5q22; GLC1H (611276) on chromosome 2p16-p15; GLC1I (609745) on chromosome 15q11-q13; GLC1J (608695) on chromosome 9q22; GLC1K (608696) on chromosome 20p12; GLC1L (see 137750) on chromosome 3p22-p21; GLC1M (610535) on chromosome 5q22; GLC1N (611274) on chromosome 15q22-q24; GLC1O (613100), caused by mutation in the NTF4 gene (162662) on chromosome 19q13.3; GLC1P (177700), caused by an approximately 300-kb duplication on chromosome 12q24, most likely involving the TBK1 gene (604834). Nail-patella syndrome (NPS; 161200), which is caused by mutation in the LMX1B gene (602575) on chromosome 9q34, has open angle glaucoma as a pleiotropic feature. - Other Forms of Glaucoma For a general description and a discussion of genetic heterogeneity of congenital forms of glaucoma, see GLC3A (231300). See 606657 for a discussion of normal tension glaucoma (NTG) or normal pressure glaucoma (NPG), a subtype of POAG.
Tanito et al. (2004) described the use of a digitized laser slit lamp that uses a helium-neon laser as a light source in detecting reduction of posterior pole retinal thickness in glaucoma. Posterior pole retinal thickness was found ... Tanito et al. (2004) described the use of a digitized laser slit lamp that uses a helium-neon laser as a light source in detecting reduction of posterior pole retinal thickness in glaucoma. Posterior pole retinal thickness was found to be decreased in early and moderate stage POAG. Reduction of perifoveal retinal thickness was correlated with visual field loss. In a study of 4,319 subjects in the Beijing Eye Study stratified into several myopia subgroups, Xu et al. (2007) found that marked to high myopia with a myopic refractive error exceeding -6 diopters was associated with a high prevalence of glaucomatous optic neuropathy.
Rezaie et al. (2002) identified mutations in the OPTN gene (602432) in patients with adult-onset POAG. They found that mutations in OPTN account for 17% of patients with hereditary POAG, including individuals with normal intraocular pressure.
... Rezaie et al. (2002) identified mutations in the OPTN gene (602432) in patients with adult-onset POAG. They found that mutations in OPTN account for 17% of patients with hereditary POAG, including individuals with normal intraocular pressure. Chalasani et al. (2007) explored functional features of optineurin and its mutants. The E50K mutation (602432.0001) acquired the ability to induce cell death selectively in retinal ganglion cells. This cell death was mediated by oxidative stress. Chalasani et al. (2007) concluded that these findings raised the possibility of antioxidant use for delaying or controlling some forms of glaucoma. - Exclusion Studies Nemesure et al. (2003) did not find support for myocilin (MYOC; 601652) or optineurin as a causative gene in an Afro-Caribbean population known to have relatively high rates of POAG. Leung et al. (2000) found no abnormality of the TISR/oculomedin coding sequence or proximal promoter mutation in 110 Chinese patients with primary open angle glaucoma.
Coulehan et al. (1980) found that black participants in a glaucoma screening program had higher mean intraocular pressures, more frequent pathologic disc changes, and more new cases of glaucoma discovered than did whites matched for sex and age. ... Coulehan et al. (1980) found that black participants in a glaucoma screening program had higher mean intraocular pressures, more frequent pathologic disc changes, and more new cases of glaucoma discovered than did whites matched for sex and age. In a 3-year period, blacks accounted for 23% of hospitalizations for chronic open angle glaucoma in 10 Pennsylvania counties, rather than the expected 6.3%. Among those hospitalized for open angle glaucoma, blacks were younger than whites.