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Choroidal dystrophies
     
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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.

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.

 

 

Open References

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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  • External and internal eye anatomy

    External and internal eye anatomy

    illustration

 

Review Date: 11/8/2023

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