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CASE REPORT
Tuberous sclerosis complex: a clinical case with multiple ophthalmological manifestations
  1. Tiago Maio,
  2. José Lemos,
  3. Jorge Moreira,
  4. Filipa Sampaio
  1. Ophthalmology, Hospital Pedro Hispano, Matosinhos, Portugal
  1. Correspondence to Dr Tiago Maio, tdsmaio{at}hotmail.com

Summary

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.

  • cranial nerves
  • hydrocephalus
  • neurooncology
  • retina
  • neuroopthalmology

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Footnotes

  • Contributors All the mentioned authors had an active contribution in the realisation of this paper. Specifying by author: TM was involved in the reporting, conception and design, acquisition and interpretation of data. JL was involved in the planning, conduct and revision of the paper. JM was involved in the planning, acquisition of data and revision. FS was involved in the reporting, interpretation of data and revision.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.