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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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Your Question

How rare is retinochoroidal coloboma? What percentage of people with ocular coloboma have retinochoroidal?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

How many people have retinochoroidal coloboma? How many people with ocular coloboma have retinochoroidal?

The actual incidence of retinochoroidal coloboma is not known. Incidence estimates for ocular coloboma range from 0.5 to 7.5 per 10,000 births depending on the population studied.[1] In a United States population the incidence of ocular coloboma was estimated to be 2.6 per 10,000 births.[1] In a single study, the incidence of retinochoroidal coloboma was found to be 0.2 per 10,000.[1]  However, because retinochoroidal coloboma often causes no symptoms, it is likely that many cases go undiagonsed.[1] 
Last updated: 1/14/2013