Tuberous sclerosis complex: a clinical case with multiple ophthalmological manifestations

Abstract

The tuberous sclerosis complex is a rare disease, with autosomal dominant transmission, with multisystemic involvement including ophthalmologic. Retinal hamartomas and retinal achromic patch are the most frequent ocular findings. Other ophthalmic signs and symptoms are relatively rare in this disease.We describe the case of a young woman with tuberous sclerosis who presented with horizontal binocular diplopia and decreased visual acuity without complaints of nausea, vomiting or headache. She had right abducens nerve palsy, pale oedema of both optic discs and retinal hamartomas. An obstructive hydrocephalus caused by an intraventricular expansive lesion was identified in brain CT.Observation by the ophthalmologist is indicated in all confirmed or suspected cases of tuberous sclerosis to aid in clinical diagnosis, monitoring of retinal hamartomas or identification of poorly symptomatic papilloedema.

Keywords: cranial nerves; hydrocephalus; neurooncology; neuroopthalmology; retina.

Figure 1

Retinography taken 1 month after surgery, showing pale oedema of both optic discs and retinal lesions consistent with retinal hamartomas (flat lesions (arrows) and a classic multinodular hamartoma (arrow head).

Figure 2

Macular optical coherence tomography demonstrating retinal disorganisation, lesions located in the retinal nerve fibre layer and optically empty spaces in the two top images (representing the multinodular hamartoma).