Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
4023943 | Journal Français d'Ophtalmologie | 2011 | 4 Pages |
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.
Related Topics
Health Sciences
Medicine and Dentistry
Ophthalmology
Authors
J.-B. Conart, T. Maalouf, P. Jonveaux, B. Guerci, K. Angioi,