1. History
  2. Exam
  3. Photos
  4. Diagnosis
  5. Teaching Points
  6. Comments

Case 143 Teaching Points

  • Choroideremia is an X-linked recessive dystrophy of the retina and choroid-associated with mutation of the CHM gene (Xq21.2)
  • Female carriers are asymptomatic but will have a salt-and-pepper fundus on exam and mild electroretinogram abnormalities
  • Night blindness in the first 2 decades progresses to decreased visual acuity in areas of atrophy

References

Kanski JJ, Milewski SA. Diseases of the Macula, Mosby:Edinburgh 2002;197-199.

Mura M, Sereda C, Jablonski MM, MacDonald IM, Iannaccone A. Clinical and functional findings in choroideremia due to complete deletion of the CHM gene. Arch Ophthalmol 2007;125:1107-1113.

Last Modified: Tuesday, 30-Sep-2008 11:06:51 EDT