Ophthalmologic Findings and Long-Term Course in Patients With Neurofibromatosis Type 2
Accepted 28 December 2005. published online 06 February 2006.
Purpose
To evaluate ophthalmologic findings and long-term course in patients with neurofibromatosis type 2 (NF2).
Design
Retrospective observational case series.
Methods
setting: Single-center institutional practice. study population: Thirty referred patients with NF2 were enrolled from 1991 to 2003 and underwent at least one thorough neuroophthalmologic examination. Follow-up of 23 patients ranged from 4.3 to 12.5 years. main outcome measures: Visual function, structural ocular abnormalities, onset and type of presenting NF2-related symptoms, and number of central nervous system tumors.
Results
Initial symptoms for patients with early-onset NF2 mostly comprised ophthalmologic symptoms (n = 7) and lower motor neuron extremity weakness (n = 6), as opposed to eighth nerve impairment (n = 11) in late disease onset. NF2-specific ocular findings were noted in 83% of all patients (94% childhood onset; 67% adult onset): 67% had cataracts, 40% epiretinal membranes, 3% hamartoma, 13% disk gliomas, and 27% optic nerve sheath meningiomas. Only 14% in the childhood-onset group—as opposed to 78% in the adult-onset group—sustained visual acuity of 1.0 in both eyes at final examination. Significantly more patients with early onset of symptoms developed multiple central nervous system tumors (P = .004) and showed a higher amount of NF2-specific findings (P = .015).
Conclusions
Initial manifestations of NF2 differ between children and adults. NF2-specific ophthalmologic findings can help establish the diagnosis. Symptom onset at a young age is clearly a risk factor for marked disease progression. These patients should be carefully followed because survival rates have increased, and vision becomes increasingly important as the disease progresses.
aDepartment of Ophthalmology, University Hospital Zürich, Zürich, Switzerland
bDepartment of Neurology, University Children’s Hospital Zürich, Zürich, Switzerland
cDepartment of Biostatistics, University of Zürich, Zürich, Switzerland
Inquiries to Klara Landau, MD, Department of Ophthalmology, University Hospital Zürich, Frauenklinikstrasse 24, 8091 Zürich, Switzerland
ABSTRACT