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Strabismus in Williams syndrome

M E Kapp¹, G K von Noorden, R Jenkins

¹Cullen Eye Institute, Baylor College of Medicine, Houston, Texas.

American Journal of Ophthalmology

|March 1, 1995

Summary

Strabismus is common in Williams syndrome (78%), particularly esotropia. Clinical features of infantile esotropia in Williams syndrome patients do not differ from the general population, suggesting a genetic link.

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Area of Science:

Ophthalmology
Genetics
Pediatrics

Background:

Williams syndrome is a rare genetic disorder characterized by intellectual disability, supravalvular aortic stenosis, distinctive facial features, and ocular abnormalities.
Strabismus is a known ocular finding in Williams syndrome, but its specific characteristics require further elucidation.

Purpose of the Study:

To investigate the prevalence and define the specific features of strabismus in patients diagnosed with Williams syndrome.
To compare the clinical characteristics of strabismus in Williams syndrome patients with those in the general population.

Main Methods:

A cohort of 32 patients with Williams syndrome was examined.
Prevalence and specific features of strabismus were documented in the study cohort.

Main Results:

Strabismus was identified in 78% of the patients (25 out of 32).
Esotropia was the most frequent type of strabismus, observed in 23 out of 25 affected patients.
Among patients with infantile esotropia, associated conditions included dissociated vertical deviation (7/19), oblique dysfunction (10/19), and amblyopia (6/19).

Conclusions:

The clinical presentation of infantile esotropia in Williams syndrome patients showed no statistically significant differences compared to the general population.
The significantly higher prevalence of esotropia in Williams syndrome (72%) versus the general population (0.1%) suggests a potential genetic association.
A genetic link between Williams syndrome and the hereditary form of infantile esotropia is postulated.

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