Glaucoma 1, Open Angle, H

For a general phenotypic description and a discussion of genetic heterogeneity of primary open angle glaucoma (POAG), see 137760.

Clinical Features

Suriyapperuma et al. (2007) reported 7 families with adult-onset primary open angle glaucoma that was not linked to previously identified POAG loci. Age at diagnosis ranged from 32 to 78 years. The maximum intraocular pressure values varied from moderate (24 mm Hg) to high (60 mm Hg). Those affected had optic nerve damage varying from early to late stages, with cup-disc ratios of up to 0.9 and significant glaucomatous visual field loss.

Mapping

Suriyapperuma et al. (2007) performed an initial genome scan and subsequent saturation mapping in 322 subjects with adult-onset POAG from 91 unrelated families unlinked to previously identified POAG loci and found consistent linkage to chromosome 2p16-p15 in 7 families. Analysis in 1 large family with 12 affected members revealed a common haplotype extending from D2S123 to D2S2165, a region of approximately 11 Mb. All affected members of the other 6 families shared similar haplotypes that overlapped with that of the large family, but with no founder effect. Combined analysis of the 7 families produced the highest lod score of 9.30 with marker D2S2320.