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Information for patients, their families and helpers

The facts: Who is at risk?

The disease affects males and females equally. Adult Refsum's disease is not a common condition and therefore the chance of a patient with retinitis pigmentosa having adult Refsum's disease is small. A person with retinitis pigmentosa and no other problem, such as a loss of smell or difficulty in walking, is unlikely to have adult Refsum's disease. The disease is a recessive genetic disorder, which means the abnormal gene causing the disease has to come from both parents. Therefore the disease is unlikely to be passed from a parent with the illness to his or her child unless the two parents were related before marriage (e.g. cousins) or both come from families with a case of adult Refsum's disease.

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Page last updated 26 June 2006