Glaucoma 1, Open Angle, M

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

Clinical Features

Wang et al. (2004) reported a large 5-generation Filipino kindred segregating juvenile-onset primary open angle glaucoma (JOAG) in an autosomal dominant fashion. Clinical characteristics were determined for 95 family members, 22 of whom were diagnosed with JOAG, including 11 males. Affected individuals were typically diagnosed before 35 years of age and had grade III-IV gonioscopy of the anterior chamber, intraocular pressures greater than or equal to 22 mm Hg, and chacteristic optic disc and visual field changes.

Mapping

Pang et al. (2006) performed a genomewide scan followed by fine mapping in 27 members of the 5-generation Filipino kindred with JOAG in which Wang et al. (2004) had excluded mutation in the MYOC (601552) and OPTN (602432) genes. They obtained a maximum lod score of 4.82 (theta = 0) at marker D5S2011 when unaffected family members under the age of 35 were considered to have 'unknown' status. Haplotype analysis and recombination mapping defined a 36-Mb interval between D5S2051 and D5S2090 on chromosome 5q22.1-q32.

Fan et al. (2007) refined the localization of the GLC1M locus to a 28-Mb region between D5S2051 and NRG2 (603818).

Molecular Genetics

In a screen of the WDR36 gene (609669), which is located centromeric to the GLC1M interval at 5q22.1, Pang et al. (2006) found no mutations within any of the 23 coding exons or splicing junctions. Fan et al. (2007) excluded NRG2 as the causative gene for GLC1M.