coloboma coloboma of macula UMLS:C1852767 MEDGEN:342305 macular coloboma hereditary macular coloboma (subtype) MONDO:0007351 icd11.foundation:366058642 Orphanet:98945 OMIM:120300 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. GARD:0001436 coloboma of macula hereditary macular dystrophy