ArticleGraefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie2026
Ophthalmic features of 218 children with Williams syndrome in china: A single-center retrospective study.
Article in Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
purposeWilliams syndrome (WS) is a multisystem neurodevelopmental disorder caused by microdeletions in 7q11.23. This study aimed to evaluate ophthalmic manifestations in Chinese children with WS.
methodsChildren diagnosed with WS were retrospectively recruited for the study. Clinical data were analyzed to obtain visual outcomes, optical biometry, and the incidence of different ocular manifestations.
resultsA total of 218 patients (134 males; 84 females) with Williams syndrome were included, with a median age of 4.15 (3.61) years. Refractive analysis revealed clinically significant refractive errors in 70.18% (153/218), comprising myopia in 28.44% (62/218), hyperopia in 5.50% (12/218), and astigmatism in 62.39% (136/218); anisometropia (≥ 1.00D) was present in 7.34% (16/218).Ocular biometry (154 patients, 308 eyes) showed mean axial length of 21.67 ± 0.90 mm and keratometry of 44.07 ± 1.66 D. Strabismus prevalence was 7.34% (16/218), predominantly esotropia (11/218, 5.05%). External examination identified bilateral congenital nasolacrimal duct obstruction in 46.79% (102/218), entropion in 25.23% (55/218), allergic conjunctivitis in 20.64% (45/218), and ptosis in 0.92% (2/218).
conclusionWS is a complex multisystem genetic disorder with diverse ophthalmic findings. Our study revealed a high incidence of refractive errors, dominated by astigmatism in WS patients.We observed shorter axial lengths compared to age-matched peers. Esotropia was the predominant form of strabismus. Nasolacrimal duct obstruction, entropion also occurred frequently.These ocular manifestations warrant early clinical attention in Chinese WS patients.
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