Williams syndrome: ophthalmological examination and review of systemic manifestations

To evaluate the frequency and severity of ophthalmic manifestations and associated diseases, as well as the epidemiological data in patients with Williams syndrome.

The authors prospectively studied 30 patients clinically diagnosed as having Williams syndrome as confirmed by the fluorescence in situ hybridization test. Patient history included gender, age, race, education level, previous illnesses, and surgeries. The ophthalmologic examination included best-corrected visual acuity, dynamic and static refraction, extraocular motility test, stereopsis test (Titmus and Lang), and direct and indirect funduscopy.

Thirty patients were included in this study. The mean age was 14.5 ± 1.38 years (range: 7 to 26 years). Fifty percent of the patients were male and 50% were female. Among the children examined, 77% had a refractive error. Hyperopia and astigmatism were noted in 67% and 20% of the patients, respectively, and myopia in 7%. Only one case of amblyopia was noted. On external examination, 23% of children had epicanthus; via biomicroscopy, 3 children with stellate patterns of the irides were observed. Eleven patients (36.6%) had measurable strabismus, 9 (82%) had esotropia, and 2 (18%) had exotropia. Binocular vision was abnormal in 43% of patients. Diffuse arteriovenous tortuosity on funduscopy was observed in 27% of patients.

Williams syndrome is rare and is associated with multiple phenotypes and diseases that are susceptible to treatment. Multidisciplinary clinical management is critical and, in some cases, surgical intervention is required.