coloboma of macula
MONDO:0007351Mondo
Findings
No curated finding names coloboma of macula yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0007351), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of