Open AccessTuberous sclerosis complex: a clinical case with multiple ophthalmological manifestations
Author(s) -
Tiago Maio,
José A. Lemos,
Jorge Moreira,
Filipa Sampaio
Publication year - 2018
Publication title -
bmj case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.231
H-Index - 26
ISSN - 1757-790X
DOI - 10.1136/bcr-2018-226662
Subject(s) - medicine , tuberous sclerosis , diplopia , multiple sclerosis , vomiting , lesion , visual acuity , retinal , hydrocephalus , nausea , palsy , ophthalmology , pathology , surgery , alternative medicine , psychiatry
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.