A DIDMOAD syndrome family with juvenile glaucoma and myopia findings
نویسندگان
چکیده
منابع مشابه
DIDMOAD syndrome: a family with three affected siblings.
In 1938 Wolfram reported the occurrence of diabetes mellitus and optic atrophy in four of eight sibs.' Over 100 similar cases have since been reported and several other clinical features have been described.2 3,4 The genetic disorder is commonly known as DIDMOAD syndrome, the mnemonic for Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness. This report describes three siblings wit...
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A case of DIDMOAD syndrome (diabetes insipidus, diabetes mellitus, optic atrophy and nerve deafness) is described. There was unusually severe urinary tract dilatation which led to an ileal conduit diversion. Immunohistological study of the bladder wall and ureter revealed a marked diminution in nerve fibres, which may have been primary or secondary to the muscle hypertrophy. The possible pathog...
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Purpose: To report a case of peripapillary intrachoroidal cavitation (choroidal schisis) and optic pit in a case of high myopia and open-angle glaucoma. Case report: A 30-year-old high myopic man was referred to our clinic for presumed peripapillary choroidal tumors. In funduscopy, there were two yellow-orange and slightly elevated peripapillary lesions in both eyes with indistinct margins. A s...
متن کاملSyndrome of the month Wolfram (DIDMOAD) syndrome
Wolfram syndrome (MIM 222300) is the association ofjuvenile onset diabetes mellitus and optic atrophy, also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness). Patients present with diabetes mellitus followed by optic atrophy in the first decade, cranial diabetes insipidus and sensorineural deafness in the second decade, dilated renal outflow tracts early in t...
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All member of family referred to our clinic complaining of white nails. Physical examination revealed clinical features of leukonychia totalis and also the presence of sensor ineural hearing loss (SNHL), palmoplantar keratoderma (PPK) and knuckle pads, the four essential criteria for the diagnosis of Bart Pumphrey syndrome. Three generations were affected with variable presentations in ma...
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ژورنال
عنوان ژورنال: Acta Ophthalmologica Scandinavica
سال: 2000
ISSN: 1395-3907,1600-0420
DOI: 10.1034/j.1600-0420.2000.078004480.x