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January 30, 2004

DIDMOAD

Question from London, England:

My 9 year old daughter has just been diagnosed with Optic atrophy. She has been to see both a eye specialist and a endocrinologist at the Great Ormond street Hospital in London, Both have advised that she will need to go for a genetic test. They have mentioned DIDMOA. Is this the same as DIDMOAD?

Answer:

I am sure that DIDMOA is the same as DIDMOAD or Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness or Wolfram’s Syndrome. The genetic defect is autosommally recessive and lies in variants of the WSF1 gene on the short arm of chromosome 4. There may also be a link which is not yet clearly understood to a defect in mitochondrial DNA. It is a complicated story but you may be sure that your daughter is in the very best of hands.

DOB