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[Ocular changes in the Williams-Beuren syndrome].
Ceskoslovenska Oftalmologie
|May 1, 1991
Summary
Ophthalmological findings are common in Williams-Beuren syndrome. This study identified esotropia, star-shaped iris, hyperopia, corneal opacities, and cataracts in patients, aiding diagnosis.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Context:
- Williams-Beuren syndrome is a rare genetic disorder with characteristic facial features and developmental delays.
- Ophthalmological manifestations are frequently observed in individuals with Williams-Beuren syndrome.
- Understanding these ocular findings is crucial for comprehensive patient management.
Purpose:
- To document the prevalence and types of ophthalmological findings in a cohort of patients with Williams-Beuren syndrome.
- To correlate specific ocular abnormalities with the diagnosis of Williams-Beuren syndrome.
Summary:
- This study examined 13 patients diagnosed with Williams-Beuren syndrome.
- Common ophthalmological findings included esotropia (7/13), star-shaped iris (8/13), and hyperopia (9/13).
- Less frequent findings were corneal opacities (3/13), cataracta punctata (1/13), and tortuous retinal vessels (3/13), with two of the latter also having hypertension.
Impact:
- The presence of specific ophthalmological signs can assist clinicians in the early and accurate diagnosis of Williams-Beuren syndrome.
- Identifying these ocular features facilitates timely intervention and management strategies for affected individuals.
- This research highlights the importance of routine ophthalmological screening in the diagnostic workup of Williams-Beuren syndrome.