CHORIODEREMA

Choroideremia

Choroideremia is a rare, inherited eye disorder characterized by:

  • Progressive loss of the choroid, retina, and retinal pigment epithelium
  • Night blindness
  • Loss of peripheral vision
  • Potential for central vision loss

Causes

  1. Genetic mutation: Mutations in the CHM gene
  2. X-linked inheritance: Primarily affects males

Symptoms

  1. Night blindness: Difficulty seeing in low light
  2. Peripheral vision loss: Loss of side vision
  3. Visual field defects: Blind spots or areas of decreased vision

Management

  1. Genetic counseling: Understanding inheritance patterns
  2. Low vision rehabilitation: Adapting to vision loss
  3. Research and clinical trials: Exploring potential treatments
  4. Regular eye exams: Monitoring disease progression

If you or a family member has choroideremia, consult with an eye care professional or genetic counselor for personalized guidance and support.