Coloboma of macula

Orpha code: 98945OMIM code:

Definition

Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders.

Disease data
Classification

Morphological anomaly

ORPHA code
98945
OMIM code
-
ICD10 code
Q14.8
ICD11 code
LA13.2

No additional description.

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