Treatment of cystic macular lesions in hereditary retinal dystrophies

Surv Ophthalmol. 2013 Nov-Dec;58(6):560-84. doi: 10.1016/j.survophthal.2012.11.006.

Abstract

Cystic macular lesions frequently contribute to impaired visual acuity in hereditary retinal dystrophies. Their pathogenesis varies and is not entirely understood. Carbonic anhydrase inhibitors have proven to be potentially efficacious, although not in all cases. We discuss the various factors and mechanisms implicated in the etiology of cystic macular lesions (anatomical abnormalities, impairment of the blood-retinal barrier, tangential vitreous traction, and mutations in retinoschin, etc.) and the various treatments that have been proposed.

Keywords: Goldmann-Favre syndrome; X-linked retinoschisis; choroideremia; cystoid macular lesions; enhanced S-cone syndrome; gyrate atrophy; hereditary retinal dystrophies; retinitis pigmentosa.

Publication types

  • Review

MeSH terms

  • Carbonic Anhydrase Inhibitors / therapeutic use
  • Choroideremia / complications*
  • Eye Diseases, Hereditary / complications*
  • Gyrate Atrophy / complications*
  • Humans
  • Macular Edema / diagnosis
  • Macular Edema / drug therapy*
  • Macular Edema / etiology
  • Retinal Degeneration / complications*
  • Retinitis Pigmentosa / complications*
  • Retinoschisis / complications*
  • Vision Disorders / complications*

Substances

  • Carbonic Anhydrase Inhibitors

Supplementary concepts

  • Enhanced S-Cone Syndrome