Coloboma of optic disc

Orpha code: 98947OMIM code:

Definition

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).

Disease data
Classification

Morphological anomaly

Synonyms
Coloboma of optic papilla
Szczelina brodawki nerwu wzrokowego
ORPHA code
98947
OMIM code
-
ICD10 code
Q14.2
ICD11 code
LA13.76

No additional description.

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