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Purpose <p>Williams 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.</p> Methods <p>Children 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.</p> Results <p>A 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&#xa0;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).</p> Conclusion <p>WS 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.</p>

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Ophthalmic features of 218 children with Williams syndrome in china: A single-center retrospective study

  • 期刊论文

  • 发表日期：

    2025年10月17日

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  • Jiayan Fang,
  • Lu Yuan,
  • Daohuan Kang,
  • Rui Yu,
  • Weijun Chen,
  • Jiyang Shen,
  • Fangfang Li,
  • Chai Ji,
  • Wen Sun

摘要

Purpose

Williams 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.

Methods

Children 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.

Results

A 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).

Conclusion

WS 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.