Background: The hallmark of Wolfram syndrome -- an extremely rare autosomal recessive disorder -- is the association of juvenile onset diabetes mellitus with optic atrophy. Additional symptoms such as deafness and diabetes insipidus may develop.
History and signs: An 18-year-old man suffered progressive visual loss over the last seven years. Severe optic atrophy with extensive cupping and slightly elevated intraocular pressure in both eyes were found. Perimetry revealed peripheral defects with paracentral scotomas. ERG results excluded tapetoretinal degeneration; visual evoked responses were delayed. At the age of nine the patient had been diagnosed with diabetes mellitus type I and neurosensory deafness, seven years later a beginning hypogonadism was found.
Therapy and outcome: Wolfram syndrome is a progressive degenerative disorder with reduced life expectancy. Treatment is symptomatic.
Conclusions: Wolfram syndrome should be considered in every patient who presents with optic atrophy and juvenile onset diabetes mellitus.