Arquivos Brasileiros de Oftalmologia
versión impresa ISSN 0004-2749
FONTES, Bruno Machado et al. Wolfram syndrome: case report. Arq. Bras. Oftalmol. [online]. 2004, vol.67, n.6, pp. 961-964. ISSN 0004-2749. http://dx.doi.org/10.1590/S0004-27492004000600023.
Wolfram syndrome consists of the association of diabetes mellitus with optic atrophy. Other common findings are deafness, urinary tract and neurological disorders. It is an autossomic recessive disease, with incomplete penetrance and variable expressivity. The aim of this case report is to describe a patient who presents all the characteristics of Wolfram syndrome (DIDMOAD syndrome). JFP, African - American, 23 years old, presents with diabetes mellitus and insipidus, optic atrophy, deafness, peripheral polyneuropathy, autonomic neuropathy, neurogenic bladder, urinary tract dilation with recurrent infections, and azoospermia. Clinical examination, retinography, fluorescein angiogram, eletroretinography (ERG) and visual evocated potencial (VEP) revealed no retinal disorders and bilateral optic atrophy. Wolfram syndrome must be remembered in cases of optic atrophy in association with diabetes, urinary disorders, or any of the described alterations.
Palabras llave : Wolfram Syndrome; Optic atrophy; Diabetes mellitus; Diabetes insipidus; Deafness.