Neurofibromatosis 2 leads to higher incidence of strabismological and neuro-ophthalmological disorders.
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Neurofibromatosis 2 leads to higher incidence of strabismological and neuro-ophthalmological disorders. / Feucht, Matthias; Griffiths, Birgit; Niemüller, Ilka; Haase, Wolfgang; Richard, Gisbert; Mautner, Viktor Felix.
in: ACTA OPHTHALMOL, Jahrgang 86, Nr. 8, 8, 2008, S. 882-886.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Neurofibromatosis 2 leads to higher incidence of strabismological and neuro-ophthalmological disorders.
AU - Feucht, Matthias
AU - Griffiths, Birgit
AU - Niemüller, Ilka
AU - Haase, Wolfgang
AU - Richard, Gisbert
AU - Mautner, Viktor Felix
PY - 2008
Y1 - 2008
N2 - 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.
AB - 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.
M3 - SCORING: Zeitschriftenaufsatz
VL - 86
SP - 882
EP - 886
JO - ACTA OPHTHALMOL
JF - ACTA OPHTHALMOL
SN - 1755-375X
IS - 8
M1 - 8
ER -