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Choroidal dystrophies

Definition

Choroidal dystrophy is an eye disorder that involves a layer of blood vessels called the choroid. These vessels are between the sclera and retina.

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.

Alternative Names

Choroideremia; Gyrate atrophy; Central areolar choroidal dystrophy

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.

Gallery

External and internal eye anatomy
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.

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.

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. pubmed.ncbi.nlm.nih.gov/34584056/.

Yanoff M, Sassani JW. Uvea. In: Yanoff M, Sassani JW, eds. Ocular Pathology. 8th ed. Philadelphia, PA: Elsevier; 2020:chap 9.

Last reviewed December 9, 2021 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..

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