Glaucoma 1, Open Angle, K

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

Mapping

Wiggs et al. (2004) identified 25 pedigrees with typical juvenile-onset OAG (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 20 markers achieved a peak hlod score of 4 between markers D20S189 and D20S104 on chromosome 20p12. Critical recombinants identified a 19-cM region between markers D20S894 and D20S878.