Coloboma of optic disc

Get in touch with RARE Concierge.

Contact RARE Concierge

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 http://www.orphadata.org. Data version July 2024

Newly diagnosed with
Coloboma of optic disc?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Don't see your organization here. Let us know here.

Clinical Trials

For a list of clinical trials in this disease area, please click here.