Abstract
To report a case of unilateral optic nerve aplasia with unusual presentation and to review the literature. Clinical and histopathological features of a 36-week-old gestation male infant were described with review of all cases of optic nerve aplasia in the literature. The unusual findings in this case are the systemic congenital anomalies. Twenty-nine out of forty-two cases reported in the literature are true cases of optic nerve aplasia; the others probably represent optic nerve hypoplasia. Out of four cases reported as bilateral, only one case could possibly represent bilateral optic nerve aplasia. Optic nerve aplasia is very rare anomaly. It is overdiagnosed entity in the literature. Bilateral cases are exceedingly rare.