Optic Disc Anomalies with Anomalous Disc Size

Abstract

Optic disc anomalies are etiologically divided into two categories: congenital and acquired. Congenital optic disc anomalies are usually diagnosed with the appearance of the optic disc and anomalies in the retina surrounding it. As a general rule, these anomalies are classified according to optic disc size, conformation, and the presence of abnormal tissue in the optic nerve head. In our study, optic nerve anomalies with abnormal disc size (congenital tilted disc syndrome, optic nerve hypoplasia, segmental optic nerve hypoplasia, homonymous hemioptic hypoplasia, optic disc dysplasia, papillorenal syndrome, and megalopapilla) are discussed. Visual acuity decrease or loss is often seen in these anomalies, increasing the clinical importance of the diseases. In addition, since congenital optic disc anomalies with abnormal disc size may be a part of an isolated or systemic malformation; early diagnosis and treatment gain importance to improve visual acuity if possible, if not, to optimize, and to evaluate other accompanying ocular and systemic disorders. A multidisciplinary approach is required for the diagnosis and follow-up of neurological, endocrinological, and renal anomalies in children with optic nerve anomalies. When deemed necessary, the clinician should not hesitate to cooperate with the relevant departments or direct the patient to centers where a more inclusive health service can be obtained.