Coloboma of optic disc
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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
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Coloboma of optic disc?
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