Ocular Features in 16 Brazilian Patients with Williams-Beuren Syndrome

Abstract

Objectives: Williams-Beuren Syndrome (WBS) is a multisystem disorder caused by the deletion of contiguous genes on chromosome 7q11.23. Ophthalmologic abnormalities and deficits in visual motor integration are important features of WBS. Here we describe our experience with Brazilian WBS patients and their ophthalmologic features.

Methods: Sixteen patients with confirmed WBS went through thorough ophthalmologic examination.

Results: The most frequent ocular findings in our group of patients were stellate iris pattern (81.2%), hyperopic astigmatism (50%), hyperopia (37.5%), tortuosity of retinal vessel (37.5%) and strabismus (18.7%).

Conclusions: This is the second report of ophthalmologic abnormalities in a group of Brazilian individuals with WBS. It is extremely valuable that specific populations are studied so that clinical diagnosis can be refined and management of patients can be driven to the most common presentations of the disease.

• 7q11.23
• microdeletion
• ocular features
• Williams-Beuren syndrome

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.

Molecular analysis was performed as a part of the project “Desenvolvimento de metodologia de baixo custo para diagnóstico molecular de síndromes de microdeleção no SUS,” granted by CNPq (Conselho Nacional de Desenvolvimento Científico e Tecnológico).