[Wolfram syndrome: clinical and genetic analysis in two sisters]. / Le syndrome de Wolfram : mise au point clinique et génétique à propos du cas de deux sÅurs.
J Fr Ophtalmol
; 34(8): 543-6, 2011 Oct.
Article
em Fr
| MEDLINE
| ID: mdl-21632151
ABSTRACT
Wolfram syndrome is a severe genetic disorder defined by the association of diabetes mellitus, optic atrophy, deafness, and diabetes insipidus. Two sisters complained of progressive visual loss. Fundus examination evidenced optic atrophy. Their past medical history revealed diabetes mellitus and deafness since childhood. The association of these symptoms made the diagnosis of Wolfram syndrome possible. It was confirmed by molecular analysis, which evidenced composite WFS1 heterozygous mutations inherited from both their mother and father. Ophthalmologists should be aware of the possibility of Wolfram syndrome when diagnosing optic atrophy in diabetic children.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Wolfram
/
Irmãos
Tipo de estudo:
Prognostic_studies
Limite:
Adolescent
/
Female
/
Humans
Idioma:
Fr
Revista:
J Fr Ophtalmol
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
França