glaucomatous cupping

Glaucoma, Congenital Primary E

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

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
Treatment
Treatment Options: 

Standard glaucoma therapies should be applied early and lifelong monitoring is necessary.

References
Article Title: 

Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity

Souma T, Tompson SW, Thomson BR, Siggs OM, Kizhatil K, Yamaguchi S, Feng L, Limviphuvadh V, Whisenhunt KN, Maurer-Stroh S, Yanovitch TL, Kalaydjieva L, Azmanov DN, Finzi S, Mauri L, Javadiyan S, Souzeau E, Zhou T, Hewitt AW, Kloss B, Burdon KP, Mackey DA, Allen KF, Ruddle JB, Lim SH, Rozen S, Tran-Viet KN, Liu X, John S, Wiggs JL, Pasutto F, Craig JE, Jin J, Quaggin SE, Young TL. Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity. J Clin Invest. 2016 Jul 1;126(7):2575-87.

PubMed ID: 
27270174
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