Wolfram syndrome is the condition characterized by juvenile onset diabetes mellitus and optic atrophy, which also known as DIDMOAD. Classical a rare autosomal recessive disorder caused mutations in WFS1, gene involved endoplasmic reticulum mitochondrial function. Patients present with type 1 followed atrophy first decade, insipidus sensorineural deafness second dilated renal outflow tracts earl...

Seven patients with a rare syndrome of diabetes insipidus (DI), diabetes mellitus (DM), optic atrophy (OA), neurosensory deafness (D), atony of the urinary tract, and other abnormalities (Wolfram or DIDMOAD syndrome) are reported. Of the seven patients, three siblings were followed up for 10-17 years. All seven patients had diabetes mellitus and optic atrophy; six had diabetes insipidus; and in...

purpose: to report five cases of wolfram syndrome, an autosomal recessive neurodegenerative disease with ِdiabetes insipidus, diabetes mellitus, optic atrophy, and deafness (didmoad syndrome). patients and findings: all of the five patients had diabetes mellitus and optic atrophy. four patients had hearing loss. in spite of persistence of polyuria and polydipsia, diabetes insipidus had been prev...

Wolfram syndrome type 1 is a rare, autosomal recessive, neurodegenerative disorder that is diagnosed when insulin-dependent diabetes of non-auto-immune origin and optic atrophy are concomitantly present. Wolfram syndrome is also designated by DIDMOAD that stands for its most frequent manifestations: diabetes insipidus, diabetes mellitus, optic atrophy and deafness. With disease progression, pat...

Background: Wolfram syndrome is a genetic condition, which is typically inherited in autosomal recessive fashion, characterized by the combination of diabetes mellitus and optic atrophy. It is along a spectrum which encompasses DIDMOAD (Diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). Profound hypoglycemic unawareness can be seen in this condition but is not commonly describ...

PURPOSE To report a case of Wolfram syndrome (WS) characterized by diabetes mellitus, diabetes insipidus, progressive optic atrophy, and deafness. CASE REPORT A 19-year-old female patient, a known case of diabetes mellitus type I from six years before, presented with progressive vision loss since four years earlier. On fundoscopic examination, she had bilateral optic atrophy without diabetic ...

OBJECTIVE To describe low-frequency sensorineural hearing loss (LFSNHL) inherited as a dominant trait in 3 families and in 1 sporadic case. DESIGN Longitudinal clinical study from 1968 to 2001. SETTING Tertiary care hospital; field studies conducted by molecular genetic research laboratory. PARTICIPANTS Dominant LFSNHL families. INTERVENTIONS Questionnaires, serial audiograms, and inter...