Neurodiagnostic Malformations of the Optic Disc
Congenital malformations of the optic disc forebode a constellation of systemic and neurological disturbances that can be predicted by the dysmorphology of the optic disc. The correlation of optic disc dysgenesis with specific intracranial malformations, genetic disturbances, and systemic aberrations, and endocrinologic perturbations has helped to elucidate basic mechanisms of disease embryogenesis. This lecture will summarise the current state of knowledge regarding optic nerve hypoplasia, morning glory disc anomaly, optic disc coloboma, peripapillary staphyloma, megalopapilla, congenital optic disc pigmentation, papillorenal syndrome, and the optic disc dysgenesis of Aicardi syndrome. Its goal will be to provide the neurodiagnostic tools to initiate an appropriate systemic and neurological evaluation based on optic disc semiology.