Anterior segment dysgenesis and the developmental glaucomas are complex traits

Hum Mol Genet. 2002 May 15;11(10):1185-93. doi: 10.1093/hmg/11.10.1185.


Glaucoma refers to a heterogeneous group of disorders that involve retinal ganglion cell death, optic nerve damage, and loss of visual field. Glaucoma is a leading cause of vision loss worldwide, affecting an estimated 67 million people. Elevated intraocular pressure is a major risk factor for glaucoma. Individuals with malformations of structures of the anterior segment of the eye frequently develop elevated intraocular pressure and glaucoma. In this review, we focus on the developmental glaucomas, the subset of glaucomas associated with anterior segment dysgenesis. To minimize overlap with other reviews in this issue and elsewhere, we highlight the complex, multifactorial nature of these diseases and recent advances using mice.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Anterior Eye Segment / abnormalities*
  • Anterior Eye Segment / embryology
  • Genetic Heterogeneity
  • Glaucoma / complications
  • Glaucoma / embryology
  • Glaucoma / genetics*
  • Humans
  • Intraocular Pressure / genetics
  • Mice
  • Multifactorial Inheritance
  • Mutation
  • Phenotype