Purpose: Williams syndrome is a rare genetic disorder, consisting of mental retardation, supravalvular aortic stenosis, elfin facies, and specific ocular findings, including strabismus. We undertook this study to evaluate the characteristics of the strabismus in Williams syndrome.
Methods: We examined 32 patients with Williams syndrome to determine the prevalence and define the features of the strabismus in this patient population.
Results: Twenty-five of the 32 patients (78%) had strabismus, esotropia being the predominant form in 23 of the 25 patients. Of the 19 patients with Williams syndrome who had infantile esotropia, seven had dissociated vertical deviation, ten had oblique dysfunction, and six had amblyopia.
Conclusions: When the patients with Williams syndrome were compared to the general population, no statistically significant difference was found in the clinical characteristics of infantile esotropia between the two groups. Because of the high prevalence of esotropia in patients with Williams syndrome (72%) compared to the general population (0.1%), we postulate a genetic link between Williams syndrome and the hereditary form of infantile esotropia.