Superior segmental optic nerve hypoplasia: The topless disc syndrome

Optic nerve hypoplasia is a well-known congenital maldevelopment presenting with an abnormally small optic nerve head occupying the central aspect of a normally sized chorioscleral canal. Characteristically, the optic nerve head is surrounded by scleral anlage with a "double ring sign." Less commonly appreciated, however, is the fact that optic nerve hypoplasia may be sectorial rather than total and involving only the superior aspect of the optic disc with corresponding inferior visual field loss.

A 51-year-old woman presented with a previous diagnosis of idiopathic optic atrophy superiorly in the left eye. Detailed observation revealed that the disc was not atrophic superiorly but actually hypoplastic, and the patient received a conclusive diagnosis of superior segmental optic nerve hypoplasia.

It must be appreciated that optic nerve hypoplasia can also affect solely the superior aspect of the disc with subsequent functional deficits. It is important to differentiate this syndrome from true optic atrophy to ensure proper management.