Coloboma of choroid and retina

Orpha code: 98942OMIM code: 120200

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.

Disease data
Classification

Morphological anomaly

ORPHA code
98942
OMIM code
120200
ICD10 code
Q14.8
ICD11 code
LA13.1

No additional description.

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