Choroidal dystrophies
Show Alternative Names
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).
Choroid
The choroid is the layer of blood vessels and connective tissue between the white of the eye and retina (at the back of the eye). It is part of the ...
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Sclera
The sclera is the white outer coating of the eye. It is tough, fibrous tissue that extends from the cornea (the clear front section of the eye) to t...
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Retina
The retina is the light-sensitive layer of tissue at the back of the eyeball. Images that come through the eye's lens are focused on the retina. Th...
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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.
Exams and Tests
The following tests may be needed to diagnose the condition:
- Electroretinography
Electroretinography
Electroretinography is a test to measure the electrical response of the eye's light-sensitive cells, called rods and cones. These cells are part of ...
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Fluorescein angiography
Fluorescein angiography is an eye test that uses a special dye and camera to look at blood flow in the retina and choroid. These are the two layers ...
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Genetic testing
The genes in our cells play important roles. They affect hair and eye color and other traits passed on from parent to child. Genes also tell cells ...
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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.
Review Date:
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.
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 pubmed.ncbi.nlm.nih.gov/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.
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