Optic disc coloboma

What it means

A cleft of the optic nerve that extends inferiorly.

A congenital, unilateral or bilateral congenital condition caused by incomplete closure of the embryonic fissure.

Rare diseases that can present with this17

The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.

Part of the broader category

Also called: Coloboma of optic nerve · Optic nerve coloboma