WOLFRAM SYNDROME

Wolfram syndrome (WS) is a rare genetic disease that occurs in approximately 1/200,000 to 1/500,000 people. The classic presentation of WS, caused by mutations in the WFS1 gene, is insulin dependent diabetes by age 5 to 6, optic nerve atrophy with profound vision impairment or blindness by age 15 to 20. Wolfram syndrome can present with other symptoms including, but not limited to, diabetes insipidus, deafness, and neurodegeneration.