Literature DB >> 2721980

Incomplete Wolfram syndrome: clinical and electrophysiologic study of two familial cases.

S Cillino1, M Anastasi, G Lodato.   

Abstract

Wolfram, or DIDMOAD, syndrome is a genetic disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy and deafness. We studied a family in which only diabetes mellitus and primary optic atrophy were present in three female siblings. Two of these patients, fraternal twins, were subjected to a complete electrophysiologic examination. The possibility of an incomplete clinical expression of Wolfram syndrome, hypotheses of its genetic transmission, and diagnostic problems are discussed.

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Mesh：

Year:  1989        PMID： 2721980     DOI： 10.1007/BF02169784

Source DB:  PubMed          Journal:  Graefes Arch Clin Exp Ophthalmol        ISSN： 0721-832X            Impact factor:   3.117


  20 in total

1.  Primary optic atrophy in diabetes mellitus.

Authors:  R G PALEY; R E TUNBRIDGE
Journal:  Diabetes       Date:  1956 Jul-Aug       Impact factor: 9.461

2.  Optic atrophy in diabetes mellitus; a report of three cases in one family.

Authors:  J R STANSBURY
Journal:  Am J Ophthalmol       Date:  1948-09       Impact factor: 5.258

3.  Optico-oto-diabetic syndrome.

Authors:  J François
Journal:  Ophthalmologica       Date:  1976       Impact factor: 3.250

4.  Clinical studies on the oscillatory potentials of the human electroretinogram with special reference to the scotopic b-wave.

Authors:  P Algvere
Journal:  Acta Ophthalmol (Copenh)       Date:  1968

5.  Clinical patterns and electrophysiological findings in retinal pigment epithelium diseases. Does a correlation exist?

Authors:  F Ponte; M Anastasi; S Cillino
Journal:  Doc Ophthalmol       Date:  1986-01-31       Impact factor: 2.379

6.  HLA-DR2 and DIDMOAD syndrome.

Authors:  I Deschamps; H Lestradet; M Schmid; J Hors
Journal:  Lancet       Date:  1983-07-09       Impact factor: 79.321

7.  Visual evoked potentials in insulin-dependent diabetics.

Authors:  M Anastasi; M Lauricella; C Giordano; A Galluzzo
Journal:  Acta Diabetol Lat       Date:  1985 Oct-Dec

8.  [Independence of retinopathy and optic atrophy in the DIDMOAD syndrome].

Authors:  R Hennekes; S Koletzko; H Hockauf
Journal:  Klin Monbl Augenheilkd       Date:  1984-08       Impact factor: 0.700

9.  VECPs and optic disc damage in diabetes.

Authors:  M Anastasi; G Lodato; S Cillino
Journal:  Doc Ophthalmol       Date:  1987-08       Impact factor: 2.379

10.  Juvenile diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, atonia of the urinary tract and bladder, and other abnormalities (Wolfram syndrome). A review of 88 cases from the literature with personal observations on 3 new patients.

Authors:  C W Cremers; P G Wijdeveld; A J Pinckers
Journal:  Acta Paediatr Scand Suppl       Date:  1977
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  2 in total

1.  A clinical case study of a Wolfram syndrome-affected family: pattern-reversal visual evoked potentials and electroretinography analysis.

Authors:  Ewa Langwińska-Wośko; Karina Broniek-Kowalik; Kamil Szulborski
Journal:  Doc Ophthalmol       Date:  2012-02-07       Impact factor: 2.379

2.  Impairment of visual function and retinal ER stress activation in Wfs1-deficient mice.

Authors:  Delphine Bonnet Wersinger; Nesrine Benkafadar; Jolanta Jagodzinska; Christian Hamel; Yukio Tanizawa; Guy Lenaers; Cécile Delettre
Journal:  PLoS One       Date:  2014-05-13       Impact factor: 3.240
  2 in total

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