Molecular genetics of rhegmatogenous retinal detachment

Eye (Lond). 2002 Jul;16(4):388-92. doi: 10.1038/sj.eye.6700195.


Rhegmatogenous retinal detachment (RRD) most commonly occurs as a spontaneous event resulting from posterior vitreous detachment, typically between the ages of 40-70 yrs. It is also a feature in some inherited disorders, most commonly Stickler syndrome. The relationship between these inherited disorders and the spontaneous cases is unclear. Here in particular we review Stickler syndrome, and discuss the differential diagnosis of Stickler, Wagner and Marshall syndromes. Other rare inherited disorders associated with RRD are also briefly reviewed.

Publication types

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

MeSH terms

  • Adult
  • Aged
  • Collagen / genetics
  • Diagnosis, Differential
  • Eye Diseases, Hereditary / diagnosis
  • Eye Diseases, Hereditary / genetics*
  • Humans
  • Middle Aged
  • Mutation
  • Retinal Detachment / diagnosis
  • Retinal Detachment / genetics*
  • Syndrome


  • Collagen