Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Coloboma of optic disc is a rare, genetic, developmental defect of the eye characterized by a unilateral or bilateral, sharply demarcated, bowl-shaped, glistening white excavation on the optic disc (typically decentered inferiorly) which usually manifests with varying degrees of reduced visual acuity. It can occur isolated or may associate other ocular (e.g. retinal detachment, retinoschisis-like separation) or systemic anomalies (e.g. renal). Disease data Classification Morphological anomaly Synonyms Coloboma of optic papilla Szczelina brodawki nerwu wzrokowego ORPHA code 98947 OMIM code - ICD10 code Q14.2 ICD11 code LA13.76 *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl