Choroidal dystrophies are eye disorders that involve a layer of blood vessels called the choroid. These vessels are between the sclera (the white of the eye) and retina (the inner layer at the back of the eye).
In most cases, a 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 doctor who specializes in the retina can diagnose this disorder.
Exams and Tests
The following tests may be needed to diagnose the condition:
- Electroretinography
- Fluorescein angiography
- Genetic testing
Treatment
Clinical trials have been underway to try to slow the disease progression by injecting a form of the missing genetic material under the retina.
Alternative Names
Choroideremia; Gyrate atrophy; Central areolar choroidal dystrophy
References
Fleckenstein M, Schmitz-Valckenberg S, Holz FG. Autofluorescence imaging. In: Sadda SVR, Sarraf D, Freund B, et al, eds. Ryan's Retina. 7th ed. Philadelphia, PA: Elsevier; 2023:chap 5.
Freund KB, Sarraf D, Mieler WF, Yannuzzi LA. Hereditary chorioretinal dystrophies. In: Freund KB, Sarraf D, Mieler WF, Yannuzzi LA, eds. Retinal Atlas, The. 2nd ed. Philadelphia, PA: Elsevier; 2017:chap 2.
Rahmani S, Schmitt M, Stepien KE. Inherited retinal diseases. In: Yanoff M, Duker JS, eds. Ophthalmology. 6th ed. Philadelphia, PA: Elsevier; 2023:chap 6.13.
Yanoff M, Sassani JW. Uvea. In: Yanoff M, Sassani JW, eds. Ocular Pathology. 9th ed. Philadelphia, PA: Elsevier; 2025:chap 9.
Review Date 10/20/2025
Updated by: Franklin W. Lusby, MD, Ophthalmologist, Lusby Vision Institute, La Jolla, CA. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.