Wolfram Syndrome

Wolfram syndrome is a rare inherited condition that combines diabetes, progressive loss of vision from optic nerve damage, hearing loss, and problems with the urinary system.

Common symptoms

Gradual loss of central vision and colour vision from childhood or early adulthood, along with diabetes, reduced hearing, and increased thirst and urination.

Description

Wolfram syndrome is caused by changes in the WFS1 gene, which affects the function of cells in the pancreas, brain, and other tissues. It is sometimes known as DIDMOAD, reflecting its main features of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.

The first sign is usually diabetes in childhood, followed within a few years by gradual loss of vision due to optic atrophy. Hearing loss, diabetes insipidus, and bladder changes typically follow. The pattern and speed of progression can vary between people in the same family.

Management involves a team across endocrinology, ophthalmology, audiology, urology, and sometimes neurology. Although there is no cure, careful control of diabetes, hearing and vision support, and access to specialist Wolfram clinics and research trials can make a real difference to quality of life.