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.
journal_name
Ophthalmic Genetjournal_title
Ophthalmic geneticsauthors
Viana MM,Frasson M,Galvão H,Leão LL,Stofanko M,Gonçalves-Dornelas H,da Silva Cunha P,Burle de Aguiar MJdoi
10.3109/13816810.2013.873941subject
Has Abstractpub_date
2015-01-01 00:00:00pages
234-8issue
3eissn
1381-6810issn
1744-5094journal_volume
36pub_type
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