Achados oftalmológicos na doença de Gaucher tipo III: caso clínico / Ophthalmologic findings in Gaucher's disease type III: case report
Rev. bras. oftalmol
;
76(6): 316-318, nov.-dez. 2017. graf
Article
in Portuguese
| LILACS
| ID: biblio-899100
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.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Eye Diseases
/
Gaucher Disease
Type of study:
Diagnostic study
Limits:
Adult
/
Female
/
Humans
Language:
Portuguese
Journal:
Rev. bras. oftalmol
Journal subject:
Ophthalmology
Year:
2017
Type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
Fundação Leiria de Andrade/BR
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