Uncommon ophthalmologic findings associated with Wolfram syndrome
نویسندگان
چکیده
منابع مشابه
Radiological findings in Wolfram syndrome.
OBJECTIVE To determine the precise radiologic findings in Wolfram syndrome (WFS) patients using objective techniques in order to better define the reference population for the clinical evaluation. METHODS Sixteen patients (6 males and 10 females) with WFS found in 4 families were included in this study. Fourteen patients with WFS-2 came from 3 families while 2 patients with WFS-1 from one fam...
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To report a case of Boucher-Neuhäuser syndrome, which is an autosomal recessive disorder characterized by the triad of spinocerebellar ataxia, chorioretinal dystrophy, and hypogonadotropic hypogonadism. An 18-year-old man was seen for visual problems, which had been diagnosed as retinitis pigmentosa at the age of 12 years. His puberty was delayed. At 16 years of age, the patient experienced pro...
متن کاملWolfram syndrome.
Wolfram syndrome is a rare neurodegenerative and genetic disorder, which should be suspected in patients with young onset non-immune insulin dependent diabetes mellitus and optic atrophy. Patients are most likely to develop diabetes insipidus, deafness, urinary tract, and neurological abnormalities. 60% of the people with Wolfram syndrome die at age 35, usually due to central respiratory center...
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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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ژورنال
عنوان ژورنال: Acta Ophthalmologica Scandinavica
سال: 2000
ISSN: 1395-3907,1600-0420
DOI: 10.1034/j.1600-0420.2000.078001118.x