Ophthalmic and Systemic Manifestations in Congenital Optic Disc Anomaly: A Ten-year Retrospective Case Series

Abstract

Introduction: Congenital optic disc anomaly is a broad spectrum of ophthalmic manifestations frequently associated with congenital visual impairment.

Objectives: To report the ophthalmic and systemic manifestations of congenital optic disc anomaly cases over ten-year.

Methods: The authors retrospectively reviewed the medical records of patients diagnosed with congenital optic disc anomalies and followed up from January 2011 to 2021.

Results: Eight patients were included in the study. The ages ranged from 1 to 35 years. Five patients were female, and three patients were male. Initial visual acuity ranged from 20/20 to counting fingers. Five patients were diagnosed with optic nerve hypoplasia, three were found with mid-line brain defects, one patient with panhypopituitarism, and isolated ONH in two patients. One patient with a morning glory disc found an ipsilateral carotid artery narrowing. One patient with optic nerve pit and another with optic disc melanocytoma found only ophthalmic manifestations. The clinical course was stable in all patients. One patient had a good visual prognosis, three patients had a fair visual prognosis, and four patients had a poor visual prognosis.

Conclusions: Some disease entities, namely, optic nerve hypoplasia and morning glory disc, are related to systemic manifestations that should be investigated and managed. The prognosis for the visual function is usually relatively stable. Neuroimaging can be instrumental in diagnosing neurological abnormalities, a rare but life-threatening condition. Young patients must be evaluated in a multidisciplinary approach with a pediatrician.