Choroideremia; Gyrate atrophy; Central areolar choroidal dystrophy
In most cases, choroidal dystrophy is due to an abnormal gene, which is passed down through families. It most often affects males, starting in childhood.
The first symptoms are peripheral vision loss and vision loss at night. An eye surgeon who specializes in the retina (back of the eye) can diagnose this disorder.
Exams and Tests
The following tests may be needed to diagnose the condition:
Electroretinography Fluorescein angiography
- Genetic testing
Clinical trials have been underway to try to slow the disease progression by injecting a form of the missing genetic material under the retina.
Freund KB, Sarraf D, Mieler WF, Yannuzzi LA. Hereditary chorioretinal dystrophies. In: Freund KB, Sarraf D, Mieler WF, Yannuzzi LA, eds. The Retinal Atlas. 2nd ed. Philadelphia, PA: Elsevier; 2017:chap 2.
Grover S, Fishman GA. Choroidal dystrophies. In: Yanoff M, Duker JS, eds. Ophthalmology. 5th ed. Philadelphia, PA: Elsevier; 2019:chap 6.16.
Klufas MA, Kiss S. Wide-field imaging. In: Schachat AP, Sadda SVR, Hinton DR, Wilkinson CP, Wiedemann P, eds. Ryan's Retina. 6th ed. Philadelphia, PA: Elsevier; 2018:chap 5.
Lam BL, Davis JL, Gregori NZ. Choroideremia gene therapy. Int Ophthalmol Clin. 2021;61(4):185-193. PMID: 34584056.
Yanoff M, Sassani JW. Uvea. In: Yanoff M, Sassani JW, eds. Ocular Pathology. 8th ed. Philadelphia, PA: Elsevier; 2020:chap 9.
Last reviewed on: 12/9/2021
Reviewed by: Franklin W. Lusby, MD, Ophthalmologist, Lusby Vision Institute, La Jolla, CA. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.