Choroidal dystrophies
Choroideremia; Gyrate atrophy; Central areolar choroidal dystrophy
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 black 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 (back of the eye) can diagnose this disorder.
The cornea allows light to enter the eye. As light passes through the eye the iris changes shape by expanding and letting more light through or constricting and letting less light through to change pupil size. The lens then changes shape to allow the accurate focusing of light on the retina. Light excites photoreceptors that eventually, through a chemical process, transmit nerve signals through the optic nerve to the brain. The brain processes these nerve impulses into sight.
Exams and Tests
The following tests may be needed to diagnose the condition:
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.
References
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.
Fleckenstein M, Schmitz-Valckenberg S, Holz FG. Autofluorescence imaging. In: Schachat AP, Sadda SVR, Hinton DR, Wilkinson CP, Wiedemann P, eds. Ryan's Retina. 7th ed. Philadelphia, PA: Elsevier; 2023:chap 5.
Lam BL, Davis JL, Gregori NZ. Choroideremia gene therapy. Int Ophthalmol Clin. 2021;61(4):185-193. PMID: 34584056
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. 8th ed. Philadelphia, PA: Elsevier; 2020:chap 9.
Version Info
Last reviewed on: 11/8/2023
Reviewed 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.
