[Congenital abnormalities of the optic disc]

Congenital abnormalities of the optic disc are not uncommon in clinical practice and should be recognized. Size abnormalities of the optic disc include optic disc aplasia, hypoplasia, megalopapilla, and optic disc cupping in prematurity. Among congenital excavations of the optic disc head, morning glory disc anomaly and optic disc pit can be complicated by serous retinal detachment; the papillorenal disc is an association of bilateral optic disc cupping and renal hypoplasia which should be ruled out; optic disc coloboma is caused by an abnormal closure of the embryonic fissure and can be complicated by choroidal neovascularization and retinal detachment. Other abnormalities that will be discussed are congenital tilted disc syndrome, duplicity of the optic disc head, congenital pigmentation of the optic disc head and myelinated retinal nerve fibers. All of these abnormalities can be associated with syndromes and neurological diseases, as well as other potentially blinding ophthalmological defects which can be secondarily complicated by amblyopia, strabismus and nystagmus. Thus, they should be recognized in order to plan for appropriate follow-up.