Clinical Phenotype of Juvenile-onset Primary Open-angle Glaucoma Linked to Chromosome 1q

Regulation of human myocilin/TIGR gene transcription in trabecular meshwork cells and astrocytes: role of upstream stimulatory factor

“…Subsequently, mutations in the same gene of patients with GLC1A-linked juvenile open-angle glaucoma were also reported by other researchers (Adam et al 1997;Kee & Ahn 1997;Stoilova et al 1997;Suzuki et al 1997;Brezin et al 1998;Mansergh et al 1998;Michels-Rautenstrauss et al 1998). Juvenile open-angle glaucoma refers to a subset of POAG that has an earlier age of onset, a highly penetrant mode of inheritance and is usually associated with a high IOP requiring early surgical treatment (Wiggs et al 1995;Johnson et al 1996).…”

Common and Rare Genetic Risk Factors for Glaucoma

“…Juvenile open-angle glaucoma is inherited as an autosomal dominant trait (Wiggs et al 1998) and is characterized by very high IOP (Wiggs et al 1995;Johnson et al 1996). Linkage studies using large families have identified a number of juvenile open-angle glaucoma loci: GLC1A (1q24.3-q25.2) (Sheffield et al 1993), GLC1J (9q22) (Wiggs et al 2004), GLC1K (20p12) (Wiggs et al 2004), GLC1M (5q22.1-q32) (Wang et al 2004;Pang et al 2006;Fan et al 2007), and GLC1N (15q22-q24) .…”

Glaucoma: genes, phenotypes, and new directions for therapy

“…The condition can be inherited as an autosomal dominant trait, and one loci (GPDS1) has been identified; however, the causative gene has not yet been discovered (35). The DBA/2J mouse spontaneously develops glaucoma that is clinically similar to human pigmentary glaucoma; however, the genes responsible for the mouse phenotype do not cause the disease in humans (36,37 (38) and is characterized by extremely high IOP, usually requiring surgical treatment (39,40). A number of genetic loci have been identified for this condition, GLC1A (1q24.3-q25.2) (41), GLC1J (9q22) (42), GLC1K (20p12) (42), GLC1M (5q22.1-q32) (43)(44)(45), and GLC1N (15q22-q24) (46), and one gene, MYOC, coding for Myocilin, has been identified from the GLC1A locus (47,48).…”