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From Tuscola, Texas, USA:

I am age 34. Around five years ago, I was diagnosed with type 2 diabetes. For more than 15 years, I have been experiencing a decline in my vision. I recently started having to use a bioptic telescope for some things (vision is 20/100). For years no one has been able to tell me why I couldn't see any better than what I was. About four months ago I saw an optical neurologist in Dallas, TX. He told me that the vision loss was due to optical atrophy. He told me that, due to the fact my father had the same problems, but not to as large a degree as I do, that my family had Wolfram's Syndrome. He did not test for this, but told me he was certain that was the problem. My question is, should I get tested, and, if so, where would I go to get such a test? I have two children and am worried that I may pass this on to them. Also, after much studying on the Internet, I am growing concerned about the other problems associated with this. I am just confused by the fact that everything I am reading indicates a much earlier onset of this. I did not contract diabetes until late 20s and my dad was late 40s. I am confused and unsure where to go with this.


The association of optic atrophy and diabetes is a strong indication for the diagnosis of Wolfram's Syndrome or DIDMOAD (Diabetes Insipidus, Diabetes mellitus, Optic Atrophy and Deafness). The so called phenotype is quite variable and may also include other neurological and urological signs, as you probably already know. The condition is an autosomal recessive one due to an abnormality in the WFS1 gene on the short arm of chromosome 4. Because of this I think the chances of the children being affected are very small. My suggestion would be to arrange a referral with the University Hospital genetics unit for confirmation and counseling. I am sure that the neurologist who first suggested the diagnosis would know how to set about this. Rather similar syndromes can be the result of disorders of mitochondrial DNA, but the fact that your father, rather than you mother, had a similar problem rules this out.


Original posting 11 Feb 2004
Posted to DIDMOAD


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Last Updated: Tuesday April 06, 2010 15:09:54
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