What is Wolfram Syndrome (WS)?

Type 1, this type results from a mutation in the WFS1 gene. The disease typically presents early with insulin-dependent diabetes mellitus and optic atrophy. Patients lose visual acuity and the ability to perceive colors. Other associated conditions may include glaucoma, abnormal pupillary light reflexes, cataracts, or retinopathy.

Half of those affected also develop diabetes insipidus, in which the body can no longer adequately concentrate urine due to a lack of the hormone vasopressin.

Additional features of WS1 may include urinary tract abnormalities and neurological disorders such as ataxia, epilepsy, depression, or cognitive impairment.

The disease becomes life-threatening when respiratory issues such as apnea occur. Gastrointestinal disorders are also common, often leading to pneumonia if vomited or regurgitated stomach contents enter the lungs.

Type 2, This type is caused by mutations in the CISD2 gene and presents with symptoms similar to WS1 but does not include diabetes insipidus.

Mutations in the WFS1 or CISD2 genes cause the disease, which is inherited in an autosomal recessive manner. At-risk couples carrying mutations in these genes should seek genetic counseling.

Although genetic changes are the cause of the disease, it’s important to note that a genetic defect is not the sole reason for vision impairment. Genes are not always constantly active; they can be turned on and off by the body (known as epigenetics). Furthermore, other factors, such as excessive mental stress or insufficient daily fluid intake (less than 2 liters), can exacerbate vision loss in addition to genetic mutations.

Once juvenile diabetes and optic atrophy are identified, family history and/or genetic screening are conducted. MRI can also detect brain atrophy, particularly in the cerebellum, spinal cord, and pons.

If family gene mutations are known, prenatal diagnosis is now also possible.

There is no causal therapy, treatment must be symptomatic. Since the identified gene effect indicates which diseases to expect, regular follow-ups and early treatments are essential. Diabetes mellitus, diabetes insipidus, respiratory disorders, and urinary tract diseases require particular attention. Expected psychiatric symptoms, such as depression, should not be overlooked.

Optic atrophy, a key symptom of Wolfram Syndrome, can be improved with SAVIR therapy. A clinical study on optic atrophy has confirmed that small microcurrent impulses activate the brain, enabling it to process the remaining optical stimuli more effectively.

This alternating current therapy is particularly effective for patients suffering from glaucoma. Read more here.

In conventional medicine, damage to the optic nerve or brain is considered irreversible. However, even when the optic nerve is already damaged, patients’ vision can be improved with SAVIR therapy. A clinical study on visual impairments confirmed this. Small microcurrent impulses activate inactive nerve cells in the retina, optic nerve, and brain. These inactive nerve cells can survive for a long time (“dormant”) because they receive enough oxygen (energy) to survive but not enough to process visual signals. When these silent nerve cells are reactivated by SAVIR therapy, optical stimuli can once again be processed more effectively. This alternating current treatment can significantly enhance vision, allowing patients to see better, even though the genetic damage to the nerve cells cannot be repaired. SAVIR therapy does not address the “primary damage” (genetic defect) but rather the secondary damage (dormant cells).

To date, no risks or side effects of SAVIR therapy have been observed in thousands of treated patients, including the few with Wolfram Syndrome. The electrical impulses are so weak that they are barely noticeable on the skin. Patients may occasionally experience brief light flashes with their eyes closed during treatment, which are to be expected.

The electrical impulses are also significantly weaker than those of a pacemaker.