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Tuberous sclerosis complex: a clinical case with multiple ophthalmological manifestations
Tiago Maio1, José Lemos1, Jorge Moreira1
1Ophthalmology, Hospital Pedro Hispano, Matosinhos, Portugal.
BMJ Case Reports
|October 28, 2018
Summary
Tuberous sclerosis complex, a rare genetic disorder, can cause vision problems like diplopia and decreased visual acuity due to eye findings and hydrocephalus. Ophthalmologic observation is crucial for early diagnosis and management in affected individuals.
Area of Science:
- Ophthalmology
- Neurology
- Genetics
Background:
- Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder with multisystemic involvement.
- Ophthalmologic findings, such as retinal hamartomas, are common, but other ocular symptoms are rare.
Observation:
- A young woman with TSC presented with horizontal binocular diplopia and decreased visual acuity.
- She exhibited right abducens nerve palsy, optic disc edema, and retinal hamartomas.
- Brain CT revealed obstructive hydrocephalus due to an intraventricular lesion.
Findings:
- The case highlights a rare presentation of TSC with significant ophthalmic manifestations.
- Abducens nerve palsy and papilledema, associated with hydrocephalus, underscore the potential for severe neurological complications.
- Retinal hamartomas were consistent with known TSC ocular findings.
Implications:
- Ophthalmologic evaluation is essential for all TSC patients for early diagnosis and monitoring.
- Prompt identification of ocular signs can aid in detecting serious neurological complications like hydrocephalus.
- Regular eye examinations are vital for managing TSC-related visual impairments and preventing vision loss.
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