Glaucoma, Congenital Primary B Clinical CharacteristicsOcular Features: Type B congenital glaucoma is considerably more rare than type A and may be more common in Middle Eastern families. Few families have been reported but the clinical features are similar: elevated intraocular pressure in infancy or early childhood, photophobia, and cloudy corneas (see Glaucoma, Congenital Primary A [231300] for a more complete description of the phenotype). Systemic Features: No systemic abnormalities are associated. GeneticsThis is an autosomal recessive disorder caused by a mutation in GLC3B mapped to a locus at 1p36.2-p36.1. Type A congenital glaucoma (231300) is caused by a mutation in CYP1B1 and type D by mutations in LTBP2 (613086). A locus at 14q24.3 has been asssociated with another form of congenital glaucoma (613085; type C) but the nature of the gene is unknown. Mutations in TEK are responsible for congenital glaucoma type GLC3E. Pedigree: Autosomal recessiveTreatmentTreatment Options: As in other types of congenital glaucoma, pressure control is difficult and the best approach entails some form of glaucoma surgical filtration. ReferencesArticle Title: A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region Akarsu AN, Turacli ME, Aktan SG, Barsoum-Homsy M, Chevrette L, Sayli BS, Sarfarazi M. A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region. Hum Mol Genet. 1996 Aug;5(8):1199-203. PubMed ID: 8842741 Read more about Glaucoma, Congenital Primary B
A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region Akarsu AN, Turacli ME, Aktan SG, Barsoum-Homsy M, Chevrette L, Sayli BS, Sarfarazi M. A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region. Hum Mol Genet. 1996 Aug;5(8):1199-203. PubMed ID: 8842741
