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Achados oftalmológicos na doença de Gaucher tipo III: caso clínico / Ophthalmologic findings in Gaucher's disease type III: case report
Matos, Alexis Galeno; Gurgel, Viviane Pinho; Gonçalves, Mariana Caliope.
Affiliation
  • Matos, Alexis Galeno; Fundação Leiria de Andrade. Fortaleza. BR
  • Gurgel, Viviane Pinho; Fundação Leiria de Andrade. Fortaleza. BR
  • Gonçalves, Mariana Caliope; Fundação Leiria de Andrade. Fortaleza. BR
Rev. bras. oftalmol ; 76(6): 316-318, nov.-dez. 2017. graf
Article in Pt | LILACS | ID: biblio-899100
Responsible library: BR1.2
RESUMO
Resumo Relata-se um caso de uma paciente com doença de Guacher tipo III, com mutação no Exon9, 1246G>A e 1251G>C, buscando investigar a suspeita de glaucoma, descrever os achados oftalmológicos, como acumulo de glicolipideo em região pré- retiniana e investigar a possível correlação com a diminuição da camada de fibras nervosas.
ABSTRACT
Abstract We report a case of a patient with Guacher's disease type III, with mutation in Exon9, 1246G> A and 1251G> C, seeking to investigate the suspected glaucoma, to describe the ophthalmological findings, as glycolipid accumulation in the pre-retinal region and to investigate The possible correlation with the decrease of the layer of nerve fibers.
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Full text: 1 Index: LILACS Main subject: Eye Diseases / Gaucher Disease Type of study: Diagnostic_studies Limits: Adult / Female / Humans Language: Pt Journal: Rev. bras. oftalmol Journal subject: OFTALMOLOGIA Year: 2017 Type: Article
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Full text: 1 Index: LILACS Main subject: Eye Diseases / Gaucher Disease Type of study: Diagnostic_studies Limits: Adult / Female / Humans Language: Pt Journal: Rev. bras. oftalmol Journal subject: OFTALMOLOGIA Year: 2017 Type: Article