1997
DOI: 10.1136/jmg.34.10.838
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Wolfram (DIDMOAD) syndrome.

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Cited by 232 publications
(217 citation statements)
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“…[137][138][139][140][141][142][143][144] Most cases have been classified as sporadic or recessively inherited. The hallmark of all these cases is the association of juvenile diabetes mellitus and progressive visual loss with optic atrophy, almost always associated with diabetes insipidus, neurosensory hearing loss, or both (hence, the eponym DIDMOAD for diabetes insipidus, diabetes mellitus, optic atrophy, and deafness).…”
Section: Other Monosymptomatic Hereditary Optic Neuropathiesmentioning
confidence: 99%
“…[137][138][139][140][141][142][143][144] Most cases have been classified as sporadic or recessively inherited. The hallmark of all these cases is the association of juvenile diabetes mellitus and progressive visual loss with optic atrophy, almost always associated with diabetes insipidus, neurosensory hearing loss, or both (hence, the eponym DIDMOAD for diabetes insipidus, diabetes mellitus, optic atrophy, and deafness).…”
Section: Other Monosymptomatic Hereditary Optic Neuropathiesmentioning
confidence: 99%
“…Wolfram syndrome is a rare recessively inherited genetic disorder, characterised by juvenile-onset diabetes mellitus and progressive optic atrophy [8]. Several neuro-psychiatric illnesses may also be present [9].…”
Section: Introductionmentioning
confidence: 99%
“…However, nearly all patients will have DM and this is typically the presenting feature with a peak incidence of onset at 5 years of age [13]. The average age of onset of diabetes in Wolfram syndrome has been reported to be younger than the average age of onset in Type 1 diabetes (T1DM) [15]. There are multiple differences between the presentation and course of autoimmune Type 1 diabetes and diabetes of Wolfram syndrome.…”
Section: Discussionmentioning
confidence: 99%
“…The other ubiquitous finding in Wolfram syndrome is optic atrophy, which can progress to blindness, and typically presents at an age of 10 years. This finding is required to make the diagnosis [15]. Additional features include diabetes insipidus with peak onset at 14 years of age and present in 73% of patients, hearing impairment progressing to deafness (onset at 15 years, prevalence of 62%), renal and GU tract abnormalities (onset at 20 years, prevalence of 58%; a large, atonic bladder is a characteristic finding), and neurologic abnormalities, most commonly progressive ataxia (peak onset at 30 years of age with prevalence of 62-70%) [15].…”
Section: Discussionmentioning
confidence: 99%
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