Retinal thinning in Gaucher disease patients and carriers: results of a pilot study.
Mol Genet Metab
; 109(2): 221-3, 2013 06.
Article
em En
| MEDLINE
| ID: mdl-23639447
ABSTRACT
Both Gaucher disease patients and heterozygous glucocerebrosidase mutation carriers are at increased risk of Parkinson's disease. Retinal thinning has been reported in early Parkinson's disease. Here we used optical coherence tomography to demonstrate thinning of the retinal ganglion cell layer in Gaucher disease patients and carriers who manifest clinical markers of potential early neurodegeneration. Optical coherence tomography may help identify Gaucher disease patients and carriers at increased risk of developing Parkinson's disease.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Degeneração Retiniana
/
Células Ganglionares da Retina
/
Doença de Gaucher
/
Glucosilceramidase
Tipo de estudo:
Etiology_studies
/
Prognostic_studies
Limite:
Aged
/
Aged80
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Mol Genet Metab
Assunto da revista:
BIOLOGIA MOLECULAR
/
BIOQUIMICA
/
METABOLISMO
Ano de publicação:
2013
Tipo de documento:
Article
País de afiliação:
Reino Unido