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Relationship between strabismus associated with Angelman syndrome and orbital anomaly.

PURPOSE: To investigate the relationship between the details of strabismus and orbital abnormalities determined by ocular motility tests and orbital imaging examinations in 9 cases with Angelman syndrome (AS).

STUDY DESIGN: A retrospective, clinical report.

METHODS: The 9 AS cases (mean age at initial visit: 4.6 ± 8.0 years) were confirmed by genetic diagnosis of the chromosome 15q11-13 region. In all cases, axial imaging of the orbit in the transverse plane of the horizontal extraocular muscles was obtained. The opening angle between both lateral walls of the orbit (greater wing of sphenoid) was measured as the biorbital angle, and compared with the 95% confidence interval of the orbital angle in normal children.

RESULTS: All cases had exotropia with means of the distance and near of angle 32.2 prism diopters (Δ) ± 9.7Δ and 32.8Δ ± 8.3Δ. The mean of the biorbital angle was 107.7° ± 7.6°, greater than the biorbital angle of 94.3° ± 5.1° previously reported in 129 normal children (P < 0.0001, t-test). Except for one biorbital angle of 93° in the 25-year-old patient, all the biorbital angles in the 8 children were larger than the upper 95% confidence interval in normal children. Astigmatic and hyperopic ametropic amblyopia were detected in 3 cases and 1 case, respectively.

CONCLUSIONS: The frequency of exotropia in AS is higher than previously reported, with our results strongly suggesting that the enlarged biorbital angle is related to the pathogenesis of exotropia in AS.

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