Coloboma of optic disc

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Synonyms: Coloboma of optic papilla

Coloboma of optic disc is a rare genetic developmental defect of the eye characterized by a unilateral or bilateral sharply demarcated bowl-shaped glistening white excavation on the optic disc (typically decentered inferiorly) which usually manifests with varying degrees of reduced visual acuity. It can occur isolated or may associate other ocular (e.g. retinal detachment retinoschisis-like separation) or systemic anomalies (e.g. renal).

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 Data version July 2024

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Coloboma of optic disc?

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