Glaucoma 1, Open Angle, J

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

Wiggs et al. (2004) identified 25 pedigrees with typical juvenile-onset primary open angle glaucoma (JOAG), demonstrating autosomal dominant inheritance. They sequenced the myocilin gene (MYOC; 601652) in probands from each family and found mutations in 8%. To identify novel genes responsible for JOAG, they used families that did not have myocilin mutations for a genomewide screen. Multipoint linkage analysis of chromosome 9 markers achieved a peak hlod score of 4.0 between markers D9S1803 and D9S196 on chromosome 9q22. Critical recombinants identified a 9-cM region between markers D9S1841 and D9S271.