Ophthalmic Findings in Williams Syndrome: A 30-Year Experience from a Regional Center for Rare Diseases
10.3341/jkos.2026.67.6.193
- Author:
Eunzee LEE
1
;
Seung Ah CHUNG
Author Information
1. Department of Ophthalmology, Ajou University School of Medicine, Suwon, Korea
- Publication Type:Original Article
- From:Journal of the Korean Ophthalmological Society
2026;67(6):193-200
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Purpose:We investigated the ophthalmic manifestations of Korean patients with Williams syndrome registered at a single regional rare disease center over the past 30 years.
Methods:We conducted a retrospective analysis of the medical records of 19 patients who underwent complete ophthalmic examinations among 56 patients diagnosed with Williams syndrome and enrolled between September 1994 and August 2024.
Results:Nineteen patients with Williams syndrome (7 boys and 12 girls) underwent their first ophthalmic examination at a mean age of 2.6 ± 2.8 years and were followed for 5.5 ± 5.1 years. Of these, 16 patients (84%) had cardiovascular abnormalities, 2 (11%) had infantile hypercalcemia, and 17 (89%) exhibited developmental delay. All patients displayed characteristic facial features with puffy eyelids. Congenital nasolacrimal duct obstruction occurred in 3 patients (16%) and resolved spontaneously. A stellate iris pattern involving approximately half the iris width was observed in 10 patients (53%). Strabismus was present in 13 patients (68%), including 6 with exotropia (1 with Duane retraction syndrome type 2) and 7 with esotropia. At the final refractive assessment (mean age 8.1 ± 2.5 years), 4 patients had hyperopia, 4 had myopia (including 1 with high myopia), 4 had astigmatism, and 3 had anisometropia; 7 patients (37%) required spectacle correction. Of the 11 patients with measurable visual acuity, 5 (45%) had amblyopia. Retinal vascular tortuosity was observed in 11 patients (58%), and attenuated retinal vessels in 10 (53%). Optical coherence tomography performed in 5 patients with normal visual acuity revealed markedly reduced central macular thickness in all, and a wide foveal pit in 1 patient.
Conclusions:Williams syndrome is associated with diverse ophthalmic manifestations that warrant regular and comprehensive ophthalmic follow-up.
