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- W2883702798 abstract "The aim of this study was to describe ophthalmological abnormalities in 14 cases of Wolfram syndrome belonging to 9 different families.Patients were submitted to a complete ophthalmological, neurological, otorhinolaryngological, urological, and genetic evaluation.Our sample comprised 14 Caucasian patients belonging to 9 different families. Their ages ranged from 10 to 38 years. The mean duration of known disease was 11.3 ± 8.7 years. Genetic confirmation was obtained in 7 families. There was a parental consanguinity history in 2 families. Five families were homozygous for a mutation of exon 8 of the WFS1 gene (Chr. 4), and 2 patients were heterozygous. Diabetes mellitus was the first manifestation in all except 1 patient. The mean age at diagnosis was 8.7 years (range 3-22). None had diabetic retinopathy. The mean age at diagnosis of optic atrophy was 11.1 years (range 8-35). The best-corrected visual acuity ranged from counting fingers to 20/50.Association of optic atrophy with insulin-dependent diabetes mellitus should raise the suspicion of Wolfram syndrome." @default.
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- W2883702798 date "2018-07-27" @default.
- W2883702798 modified "2023-09-25" @default.
- W2883702798 title "Ophthalmologic Manifestations of Wolfram Syndrome: Report of 14 Cases" @default.
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- W2883702798 doi "https://doi.org/10.1159/000490535" @default.
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