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Visual function in neurofibromatosis
A Castanheira-Dinis1, M Novais, I Cravo
1Department of Paediatric Ophthalmology, Santa Maria Hospital Eye Clinic, Lisbon Faculty of Medicine, Portugal.
Summary
Neurofibromatosis (NF) can cause visual dysfunction in nearly 15% of patients, with decreased visual acuity being most common. Early detection through neuro-ophthalmological exams and imaging is crucial for managing this serious condition.
Area of Science:
- Ophthalmology
- Neurology
- Genetics
Background:
- Neurofibromatosis (NF) is a genetic disorder with potential ocular manifestations.
- Evaluating visual function in NF patients is essential for understanding disease impact.
Observation:
- 75 patients with NF underwent neuro-ophthalmological examinations.
- Electrophysiological and imaging studies were utilized to assess visual function.
- Correlation between ophthalmic changes and visual dysfunction was investigated.
Findings:
- Ocular findings were observed in 56% of patients.
- Significant visual dysfunction was identified in 14.7% of patients.
- Decreased visual acuity was the primary visual impairment, affecting 72.7% of those with dysfunction.
Implications:
- Visual dysfunction in NF is a serious concern requiring ophthalmologist attention.
- Combined clinical and imaging assessments are vital for NF diagnosis and management.
- High prevalence of asymptomatic ocular findings underscores the importance of imaging in NF evaluation.