Coloboma of Optic Nerve (COLON)

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GARD: ¹⁹ Coloboma of the optic nerve is a congenital eye abnormality in which the optic nerve (which carries images of what the eye sees to the brain) is not completely formed. The condition may occur in one or both eyes. The degree of visual impairment varies widely depending on the severity and structures involved. Detachments of the retina may occur in in people who have Coloboma of optic nerve. Other associated symptoms may include a small eye (microphthalmia) with or without a cyst; small cornea (microcornea); or coloboma of other eye structures. Although the condition is present from birth, diagnosis may be delayed since the coloboma is inside the eye and not visible by simple inspection. Coloboma of the optic nerve may occur sporadically, may be due to a genetic change and be inherited, or may occur as a feature of an underlying syndrome or other genetic condition.

MalaCards based summary: Coloboma of Optic Nerve, also known as morning glory disc anomaly, is related to papillorenal syndrome and wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome. An important gene associated with Coloboma of Optic Nerve is PAX6 (Paired Box 6), and among its related pathways/superpathways is Mesodermal commitment pathway. Affiliated tissues include colon, eye and retina, and related phenotypes are abnormality of retinal pigmentation and strabismus

Orphanet ⁵⁸ Morning glory disc anomaly: A congenital optic disc anomaly characterized by a funnel shaped excavation of the posterior fundus that incorporates the optic disc. Clinically, the optic disc malformation resembles the morning glory flower. Morning glory disc anomaly (MGDA) is usually unilateral and often results in a decrease in best-corrected visual acuity (BCVA). MGDA can be isolated or associated with other ocular or non-ocular anomalies.

Coloboma of optic disc: 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).

UniProtKB/Swiss-Prot: ⁷³ An ocular defect that is due to malclosure of the fetal intraocular fissure affecting the optic nerve head. In some affected individuals, it appears as enlargement of the physiologic cup with severely affected eyes showing huge cavities at the site of the disk.

Wikipedia: ⁷⁵ Coloboma of optic nerve is a rare defect of the optic nerve that causes moderate to severe visual field... more...

Clinical features from OMIM®:

Search NIH Clinical Center for Coloboma of Optic Nerve