Coats-like retinopathy in Joubert syndrome

J AAPOS. 2016 Aug;20(4):372-4. doi: 10.1016/j.jaapos.2016.03.018. Epub 2016 Jul 1.

Abstract

An 11-year-old girl with Joubert syndrome was evaluated for a dim red reflex in her left eye. Fundus examination revealed retinal telangiectasias bilaterally compatible with Coats-like pigmentary retinopathy, a phenomenon not previously reported in Joubert syndrome. Coats-like exudative retinopathy may result in permanent visual loss if left untreated. The exudative retinopathy was controlled after multiple sessions of indirect laser photocoagulation and cryotherapy, with a good visual outcome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / pathology
  • Cerebellum / abnormalities*
  • Cerebellum / pathology
  • Child
  • Eye Abnormalities / diagnosis*
  • Eye Abnormalities / pathology
  • Female
  • Humans
  • Kidney Diseases, Cystic / diagnosis*
  • Kidney Diseases, Cystic / pathology
  • Laser Coagulation
  • Retina / abnormalities*
  • Retina / pathology
  • Retinal Telangiectasis / diagnosis
  • Retinal Telangiectasis / etiology*

Supplementary concepts

  • Agenesis of Cerebellar Vermis