Coloboma of choroid and retina

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Coloboma of choroid and retina is a rare genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris microcornea nystagmus strabismus microphthalmos) are usually associated however it may also be isolated.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Coloboma of choroid and retina?

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