coloboma of choroid and retina
MONDO:0020354Mondo
Findings
No curated finding names coloboma of choroid and retina yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Coloboma of choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated.
Definition from the Mondo Disease Ontology (MONDO:0020354), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of