PURPOSE: Ophthalmic features of neurofibromatosis 2 (NF2) include juvenile cataract, retinal hamartomas and tumours of the cranial nerves. We hypothesize that these tumours lead to strabismological and neuro-ophthalmological symptoms, including palsies of cranial nerves III, IV and VI, nystagmus and gaze palsies. METHODS: We carried out a retrospective review of 73 patients with known genotype. They underwent ophthalmic, neuro-ophthalmological and strabismological examination. Statistical analysis was performed by calculating odds ratios and their 95% confidence intervals. RESULTS: Mean best corrected visual acuity was 0.85. Strabismus was found in 38 of 73 patients (52%). A deviation based on a cranial nerve palsy was found in 16 patients (22%) and three had supranuclear palsies. Eleven of 73 patients had a nystagmus, mostly caused by peripheral-vestibular disturbance. Binocular single vision was normal in 41 (58%), subnormal in six (8%) and not present in 24 (34%) patients. The average refractive error was - 0.57 D. Myopia of >or= 0.5 D was present in 47 (33%) eyes and hyperopia of >or= 2.0 D was measured in 11 (8%) eyes. In the subgroup analysis of NF2 mutation types, the relative risk for cranial nerve palsies and negative stereopsis was statistically significantly increased for the nonsense mutation group. The mosaicism group had a statistically significant decreased relative risk for concomitant squint, as did patients with unfound mutations for strabismus and poor stereopsis. CONCLUSIONS: The present study is, to our knowledge, the first to examine a larger collection of NF2 patients for strabismological and neuro-ophthalmological lesions. Compared with the normal population, our sample showed a higher amount of strabismus, refractive errors and an increased incidence of vestibular nystagmus.
PURPOSE: Ophthalmic features of neurofibromatosis 2 (NF2) include juvenile cataract, retinal hamartomas and tumours of the cranial nerves. We hypothesize that these tumours lead to strabismological and neuro-ophthalmological symptoms, including palsies of cranial nerves III, IV and VI, nystagmus and gaze palsies. METHODS: We carried out a retrospective review of 73 patients with known genotype. They underwent ophthalmic, neuro-ophthalmological and strabismological examination. Statistical analysis was performed by calculating odds ratios and their 95% confidence intervals. RESULTS: Mean best corrected visual acuity was 0.85. Strabismus was found in 38 of 73 patients (52%). A deviation based on a cranial nerve palsy was found in 16 patients (22%) and three had supranuclear palsies. Eleven of 73 patients had a nystagmus, mostly caused by peripheral-vestibular disturbance. Binocular single vision was normal in 41 (58%), subnormal in six (8%) and not present in 24 (34%) patients. The average refractive error was - 0.57 D. Myopia of >or= 0.5 D was present in 47 (33%) eyes and hyperopia of >or= 2.0 D was measured in 11 (8%) eyes. In the subgroup analysis of NF2 mutation types, the relative risk for cranial nerve palsies and negative stereopsis was statistically significantly increased for the nonsense mutation group. The mosaicism group had a statistically significant decreased relative risk for concomitant squint, as did patients with unfound mutations for strabismus and poor stereopsis. CONCLUSIONS: The present study is, to our knowledge, the first to examine a larger collection of NF2 patients for strabismological and neuro-ophthalmological lesions. Compared with the normal population, our sample showed a higher amount of strabismus, refractive errors and an increased incidence of vestibular nystagmus.