Ophthalmic genetics · 2015
Ocular Features in 16 Brazilian Patients with Williams-Beuren Syndrome.
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Viana Melissa Machado, Frasson Maria, Galvão Henrique, Leão Letícia Lima, Stofanko Martin, Gonçalves-Dornelas Higgor, da Silva Cunha Pricila, Burle de Aguiar Marcos José
Аннотация
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.
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.
Предметные рубрики MeSH
AdolescentAdultAstigmatismBrazilChildChild, PreschoolElastinEye DiseasesFemaleHumansHyperopiaIn Situ Hybridization, FluorescenceIris DiseasesLim KinasesLoss of HeterozygosityMaleMicrosatellite RepeatsPolymerase Chain ReactionReal-Time Polymerase Chain ReactionRetinal VesselsStrabismusWilliams Syndrome