Glaucoma 1, Open Angle, N

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

Clinical Features

Wang et al. (2006) reported a 3-generation Chinese family in which 8 members had confirmed autosomal dominant juvenile-onset primary open angle glaucoma (JOAG; see 137750). Age at diagnosis ranged from 12 to 32 years. All of those affected showed notable increase in intraocular pressure and severe visual loss. All had a wide anterior chamber. Although most of them had typical glaucoma changes in optic disc and visual field, they all showed a normal iris, no anterior segment anomalies, and corneal thickness and anterior chamber depth within normal ranges.

Mapping

In 8 affected members of a Chinese family segregating autosomal dominant JOAG, Wang et al. (2006) excluded mutations in the MYOC (601652), OPTN (602432), and WDR36 (609669) genes. A genomewide scan showed linkage of the disorder, designated GLC1N, with D15S125, with a maximum 2-point lod score of 3.31 at theta = 0.0. Haplotype analysis and recombination mapping localized the disease locus to 15q22-q24 within a genetic distance of 16.6 Mb flanked by D15S1036 and rs922693.

Molecular Genetics

In affected members of a Chinese family segregating GLC1N, Wang et al. (2006) identified no mutations in the coding exons or splicing junctions of 3 candidate genes: NR2E3 (604485), SMAD6 (602931), and CLN6 (606725).