Optic nerve hypoplasia and colobomatous defects.
The case of a 21-year-old woman with an optic nerve head coloboma and optic pit in one eye, a hypoplastic optic nerve head in the second eye, and a small retinochoroidal coloboma in each eye is presented. The probable etiology is some unknown insult involving several ocular embryonic structures and occurring during the 11-mm to 20-mm stage of development. The occurrence of these multiple anomalies in the same patient lends further support to the theory that optic disc colobomas and optic nerve hypoplasia represent a spectrum of developmental anomalies of the optic nerve.
D000015:Abnormalities, Multiple / Q000209:etiology; D000328:Adult; D002829:Choroid / Q000002:abnormalities*; D003103:Coloboma / Q000150:complications / Q000175:diagnosis*; D005260:Female; D006801:Humans; D009759:Nystagmus, Pathologic / Q000150:complications; D009898:Optic Disk / Q000002:abnormalities*; D009900:Optic Nerve / Q000002:abnormalities*; D012160:Retina / Q000002:abnormalities*