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Diseases

Genetic and Rare Diseases Information Center (GARD)

Retinochoroidal coloboma


Other Names for this Disease
  • Coloboma of choroid and retina
  • Retinal Coloboma
  • Choroidal coloboma
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Overview

Retinochoroidal coloboma is an eye abnormality that occurs before birth. It is characterized by missing pieces of tissue in both the retina (the light-sensitive tissue lining the back of the eye) and choroid (the blood vessel layer under the retina). 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; cataract; and abnormal blood vessel growth in the choroid (choroidal neovascularization). Retinochoroidal coloboma can involve one or both eyes, and may occur alone or in association with other birth defects. It can be inherited or can occur sporadically.[1][2][3]
Last updated: 10/15/2015

References

  1. 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.
  2. 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.
  3. Barnard S, Shneor E, Brauner J, Millodot M, Gordon-Shaag A. Bilateral chorioretinal coloboma discovered with ultra-wide field retinal imaging. J Optom. 2012; 5(3):150-154. http://www.journalofoptometry.org/en/bilateral-chorioretinal-coloboma-discovered-with/articulo/90149576/.
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Basic Information

  • The American Academy of Ophthalmology Web site has an information page on Retinochoroidal coloboma. Their Web site is dedicated to educating people about eye diseases and conditions and the preservation of eye health.
  • Genetics Home Reference (GHR) contains information on Retinochoroidal coloboma. This website is maintained by the National Library of Medicine.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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
  • Coloboma of choroid and retina
  • Retinal Coloboma
  • Choroidal 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.