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Ocular fundus in neurofibromatosis type 2
1Department of Ophthalmology, University Hospital of Zurich, Switzerland.
The British Journal of Ophthalmology
|October 1, 1993
Summary
Epiretinal membranes are common in neurofibromatosis type 2 (NF 2). Optic disc gliomas are rare but specific signs of NF 2, warranting careful ocular examination for at-risk patients.
Area of Science:
- Ophthalmology
- Genetics
- Neurology
Background:
- Neurofibromatosis type 2 (NF 2) is a genetic disorder.
- Ocular findings have been historically linked to NF 2.
- Previous reports suggested associations with juvenile cataracts and retinal hamartomas.
Observation:
- A study examined six patients diagnosed with NF 2.
- Ocular fundus examinations were performed.
- Patient history and previous reports were reviewed.
Findings:
- Epiretinal membranes were identified in four patients (affecting six of 12 eyes).
- One patient presented with an optic disc glioma.
- A separate case of optic disc glioma in an NF 2 patient was also documented.
Implications:
- Epiretinal membranes are a frequent ocular manifestation in NF 2.
- Optic disc gliomas, though rare, are a specific indicator of NF 2.
- Regular ophthalmic screening is crucial for individuals at risk of NF 2.