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Genetic and Rare Diseases Information Center (GARD)

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Retinochoroidal coloboma


Other Names for this Disease

  • Choroidal coloboma
  • Coloboma of choroid and retina
  • Retinal Coloboma
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Overview

Retinochoroidal coloboma is an eye abnormality that occurs before birth. In retinochoroidal coloboma, the retina, which is the light-sensitive tissue that lines the back of the eye, and the blood vessel layer under the retina, called the choroid, are missing pieces of tissue. In many cases, retinochoroidal coloboma does not cause symptoms, however complications such as retinal detachment, may occur at any age. Other possible complications include loss of visual clarity or distorted vision,[1] cataract, small eyes (microphtalmia) with cyst, and rarely, abnormal blood vessel growth in the choroid (choroidal neovascularization).[2] Retinochoroidal coloboma can involve one or both eyes. It may occur alone or in association with other birth defects. It can be inherited or occur sporadically.
Last updated: 1/14/2013

References

  1. Barnard S, Shneor E, Brauner J, Millodot M, Gordon-Shaag. Bilateral chorioretinal coloboma discovered with ultra-wide field retinal imaging. J Optom. 2012;05(3):150-154; http://www.journalofoptometry.org/en/bilateral-chorioretinal-coloboma-discovered-with/articulo/90149576/. Accessed 1/14/2012.
  2. Gupta A, Narang S, Gupta V, Sharma A, Pandav SS, Singh P. Successful closure of spontaneous scleral fistula in retinochoroidal coloboma. Arch Ophthalmol. 2001 Aug;119(8):1220-1; http://www.ncbi.nlm.nih.gov/pubmed/1483101. Accessed 1/11/2013.
  3. Dutton GN. Congenital disorders of the optic nerve: excavations and hypoplasia. Eye (Lond). 2004 Nov;18(11):1038-48; http://www.ncbi.nlm.nih.gov/pubmed/15534588. Accessed 1/11/2013.
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Basic Information

  • The National Eye Institute, part of the National Institute of Health, provides information on coloboma in general. Click on National Eye Institute to view the PDF document.

In Depth Information

  • PubMed is a searchable database of medical literature and lists journal articles that discuss Retinochoroidal coloboma. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Choroidal coloboma
  • Coloboma of choroid and retina
  • Retinal Coloboma
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.