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Ophthalmic features of 218 children with Williams syndrome in china: A single-center retrospective study
Jiayan Fang1, Lu Yuan1, Daohuan Kang1
1Department of Opthalmology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, 3333 Binsheng Road, Hangzhou, 310052, Zhejiang Province, China.
Insights
Williams syndrome (WS) in Chinese children frequently presents with significant refractive errors, particularly astigmatism. Early ophthalmic screening is crucial for managing these common ocular manifestations in WS patients.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Williams syndrome (WS) is a genetic disorder caused by microdeletions in 7q11.23, affecting multiple systems.
- Ophthalmic manifestations are common in WS, but data on Chinese children are limited.
Purpose of the Study:
- To evaluate the spectrum and incidence of ophthalmic findings in Chinese children with Williams syndrome.
- To analyze refractive errors, ocular biometry, and specific ocular conditions in this population.
Main Methods:
- Retrospective analysis of clinical data from 218 Chinese children diagnosed with WS.
- Evaluation of visual outcomes, optical biometry, and ocular examination findings.
Main Results:
- High prevalence of refractive errors (70.18%), dominated by astigmatism (62.39%).
- Shorter mean axial length (21.67 mm) compared to peers.
- Frequent occurrences of congenital nasolacrimal duct obstruction (46.79%) and entropion (25.23%).
- Esotropia was the most common type of strabismus (5.05%).
Conclusions:
- Williams syndrome presents diverse ophthalmic findings in Chinese children.
- Refractive errors, especially astigmatism, and nasolacrimal duct obstruction are highly prevalent.
- Early and regular ophthalmic evaluations are recommended for early detection and management.
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.
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