Coloboma of eyelid

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Coloboma of eyelid

A rare genetic developmental defect of the eye characterized by a uni- or bilateral symmetrical or asymmetrical partial or full thickness defect of the superior or inferior eyelid margin ranging in size from a small notch to complete absence of the entire lid typically located on the medial to lateral third of the eyelid resulting in an unprotected cornea and thus possibly leading to exposure keratopathy and vision impairment. It may occur isolated be associated with other ocular defects or be part of a craniofacial syndrome such as Treacher-Collins or Goldenhar syndrome.

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 February 2024

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Coloboma of eyelid?

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Clinical Trials

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