Diabetes mellitus and insipidus with optic atrophy and deafness also known as Wolfram syndrome or DIDMOAD, is a rare genetic disorder that causes a very specific set of symptoms. Symptoms include childhood-onset diabetes, optic atrophy (loss of vision), and deafness. The main symptoms of Wolfram syndrome are high blood sugar levels (due to a shortage of the hormone insulin that takes up sugar from the blood), progressive vision loss (due to problems with the nerves that carry visual information from the eye to the brain), in addition to frequent urination, urinary tract problems, and hearing loss.
Diabetes is usually the first symptom that is noticed with this condition (around age 6), followed by vision problems , including loss of color vision and side (peripheral) vision. Some individuals with this condition may also develop neurological or psychiatric disorders. Wolfram syndrome is usually fatal by mid-adulthood due to complications with diabetes and neurological problems.
Wolfram syndrome is a genetic condition caused by changes in the WSF1 or CISD2 genes. Autosomal recessive means that an individual must have two copies of the changed gene or mutation that causes the condition. A person with one changed gene would be a carrier of the condition but usually will not have any symptoms. If both parents are carriers of the condition, each child has a one-in-four chance (25%) of having the disease.
In order to diagnose Wolfram syndrome, diabetes, vision loss, and hearing loss must be present. Genetic testing can also be used to confirm the diagnosis.
Treatment options vary based on severity of the symptoms. For diabetes, treatment can include insulin injections, medication for kidneys, and a controlled diet. For vision and hearing loss certain glasses and hearing aids may be helpful. It is important to talk to your doctor about the most current treatment plans.
Description Last Updated: Sep 03, 2018