OMIM ID:
Glaucoma, Congenital Primary E
Alternate Names
Defective Genes
Clinical Characteristics
Ocular Features
Glaucoma is usually present at birth but sometimes not detected for several months. Intraocular pressures are generally greater than 21 mm Hg. Increased optic nerve cupping greater than 40% was also used to make the diagnosis in many individuals. Ten families have been reported and in half the disease was unilateral only.
Systemic Features
No consistent systemic features are present.
Genetics
Inheritance
Heterozygous mutations in the TEK (9p21.2) gene (600221) are responsible for this disorder. The TEK receptor is a tyrosine kinase primarily expressed in endothelial cells in mice, rats and humans. In Tek-knockout mice Schlemm’s canal and the trabecular meshwork are hypoplastic and dysmorphic.
For additional mutations and congenital glaucoma conditions see Glaucoma, Congenital Primary A.
Pedigree
Autosomal dominant
Autosomal dominant disorders require only one mutation for the disease to be expressed. Since an affected parent has two chromosomes, only one of which has the mutant gene, parents can expect that half (50%) of their children will receive that one and inherit the disease. It is common for individuals that inherit the mutation, however, to not have evidence of the disease (nonpenetrance).
Autosomal dominant inheritance leads to a vertical pattern of transmission