From OMIMPrimary congenital glaucoma is the most common type of childhood glaucoma, with autosomal recessive inheritance and an incidence ranging from 1 in 30,000 to 1 in 1,250. Signs of the disease include early onset (birth to 3 years of age), increased intraocular pressure, increased corneal diameter, enlarged globe, Haab striae (breaks in Descemet membrane), corneal edema, and optic nerve head cupping. Congenital glaucoma is a chronic disease and a serious cause of blindness worldwide (summary by Azmanov et al., 2011).
Genetic Heterogeneity of Primary Congenital Glaucoma
Primary congenital glaucoma-3B (GLC3B; 600975) maps to chromosome 1p36.2-p36.1. GLC3C (613085) maps to chromosome 14q24.3. GLC3D (613086) is caused by mutation in the LTBP2 gene (602091) located on chromosome 14q24 but outside the locus for GLC3C. GLC3E (617272) is caused by mutation in the TEK gene (600221) on chromosome 9p21.
http://www.omim.org/entry/231300