The genetics of pigment dispersion syndrome and pigmentary glaucoma

Surv Ophthalmol. Mar-Apr 2013;58(2):164-75. doi: 10.1016/j.survophthal.2012.08.002. Epub 2012 Dec 6.


We review the inheritance patterns and recent genetic advances in the study of pigment dispersion syndrome (PDS) and pigmentary glaucoma (PG). Both conditions may result from combinations of mutations in more than one gene or from common variants in many genes, each contributing small effects. We discuss the currently known genetic loci that may be related with PDS/PG in humans, the role of animal models in expanding our understanding of the genetic basis of PDS, the genetic factors underlying the risk for conversion from PDS to PG and the relationship between genetic and environmental--as well as anatomical--risk factors.

Publication types

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

MeSH terms

  • Amino Acid Oxidoreductases / genetics
  • Animals
  • Chromosomes, Human, Pair 7 / genetics
  • Cytoskeletal Proteins / genetics
  • Disease Models, Animal
  • Exfoliation Syndrome / genetics*
  • Eye Proteins / genetics
  • Gene-Environment Interaction
  • Glaucoma, Open-Angle / genetics*
  • Glycoproteins / genetics
  • Humans
  • Membrane Glycoproteins / genetics
  • Mice
  • Mutation
  • Oxidoreductases / genetics


  • Cytoskeletal Proteins
  • Eye Proteins
  • Glycoproteins
  • Gpnmb protein, mouse
  • Membrane Glycoproteins
  • trabecular meshwork-induced glucocorticoid response protein
  • Oxidoreductases
  • Tyrp1 protein, mouse
  • Amino Acid Oxidoreductases
  • LOXL1 protein, human