Overview

Topless disc syndrome is a superior segmental optic disc hypoplasia thought to arise from an interruption in foetal development resulting in dysplasia of retinal neural tissue.

Funduscopically, a thinning of the RNFL and associated loss of the normal reflectivity is noted superiorly. Superior peripapillary atrophy and disc pallor with dense inferior altitudinal field defects are typically noted. Additionally, the superior branch of the central retinal artery enters the eye in a more superior location than is typical.

Topless disc syndrome has an association with maternal diabetes, however not all cases show this same association.

Case Examples

Differential diagnosis

References

Shew, W. and Johnson, R.A. (2018), A case of topless disc syndrome (superior segmental optic hypoplasia). Clin Exp Optom, 101: 707-711

Sowka J, Vollmer L, Reynolds S. Superior segmental optic nerve hypoplasia: The topless disc syndrome. Optometry. 2008 Oct;79(10):576-80.