MRCEM Notes

Retinitis pigmentosa

Retinitis pigmentosa primarily affects the peripheral retina resulting in tunnel vision

Features
  • night blindness is often the initial sign
  • tunnel vision due to loss of the peripheral retina (occasionally referred to as funnel vision)
  • fundoscopy: black bone spicule-shaped pigmentation in the peripheral retina, mottling of the retinal pigment epithelium

Associated diseases
  • Refsum disease: cerebellar ataxia, peripheral neuropathy, deafness, ichthyosis
  • Usher syndrome
  • abetalipoproteinemia
  • Lawrence-Moon-Biedl syndrome
  • Kearns-Sayre syndrome
  • Alport's syndrome

Wikipedia
Fundus showing changes secondary to retinitis pigmentosa
Full-size image