title: Incomplete Wolfram syndrome: clinical and electrophysiologic study of two familial cases.
abstract: Wolfram, or DIDMOAD, syndrome is a genetic disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy and deafness. We studied a family in which only diabetes mellitus and primary optic atrophy were present in three female siblings. Two of these patients, fraternal twins, were subjected to a complete electrophysiologic examination. The possibility of an incomplete clinical expression of Wolfram syndrome, hypotheses of its genetic transmission, and diagnostic problems are discussed.
authors.affiliation: Istituto di Clinica Oculistica, Policlinico, Palermo, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Cillino
authors.forename: M
authors.initials: M
authors.lastname: Anastasi
authors.forename: G
authors.initials: G
authors.lastname: Lodato
mesh_terms: D000328:Adult; D003920:Diabetes Mellitus / Q000235:genetics / Q000503:physiopathology*; D004594:Electrophysiology; D005260:Female; D006801:Humans; D009896:Optic Atrophy / Q000235:genetics / Q000503:physiopathology*; D014929:Wolfram Syndrome / Q000235:genetics / Q000503:physiopathology*