coloboma, ocular, autosomal dominant coloboma of choroid and retina https://www.malacards.org/card/coloboma_of_choroid_and_retina retinal coloboma icd11.foundation:20223105 retinochoroidal coloboma GARD:0016875 MONDO:0020354 SCTID:39302008 choroidal coloboma Orphanet:98942 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. MEDGEN:1643994 UMLS:C4708599