Brasília de Minas, Brazil
Brasília de Minas, Brazil

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Viana M.M.,Federal University of Minas Gerais | Frasson M.,Federal University of Minas Gerais | Leao L.L.,Federal University of Minas Gerais | Stofanko M.,Nucleo de Genetica Medica GENE | And 3 more authors.
Ophthalmic Genetics | Year: 2013

Background: Williams-Beuren syndrome is a multisystemic genetic disorder caused by a contiguous gene deletion at 7q11.23. Keratoconus is a complex disease and it is suspected to have a genetic origin, although the specific gene responsible for keratoconus has not been identified. Although there are several ocular features in Williams-Beuren syndrome, keratoconus is not regularly described as part of this syndrome. Purpose: To report a new patient with keratoconus and Williams-Beuren syndrome. Discussion: This is the third case of an association between Williams-Beuren syndrome and keratoconus. The authors believe that the Williams-Beuren syndrome chromosome region can be a possible target for further investigation as the genetic basis of keratoconus. Copyright © Informa Healthcare USA, Inc.


Viana M.M.,Federal University of Minas Gerais | Frasson M.,Federal University of Minas Gerais | Galvao H.,Federal University of Minas Gerais | Leao L.L.,Federal University of Minas Gerais | And 4 more authors.
Ophthalmic Genetics | Year: 2015

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. © 2015 Taylor & Francis Group, LLC.

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