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

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 su...

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Veröffentlicht in:Graefe's archive for clinical and experimental ophthalmology 1989, Vol.227 (2), p.131-135
Hauptverfasser: CILLINO, S, ANASTASI, M, LODATO, G
Format: Artikel
Sprache:eng
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Zusammenfassung: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.
ISSN:0721-832X
1435-702X