Ophthalmologic Manifestations of Wolfram Syndrome: Report of 14 Cases

• Type: Article in International Scientific Journal
• Date: 2019

Authors

Soares, A (Author) Other; Mota, A (Author) Other; Fonseca, S (Author) Other; Faria, O (Author) FMUP; Brandao, E (Author) Other; dos Reis, FF (Author) Other; Gentil, R (Author) Other; Guimaraes, S (Author) Other; Mendonca, L (Author) Other

Journal

Title: Ophthalmologica

Vol. 241

Pages: 116-119

ISSN: 0030-3755

Publisher: Karger

Indexing

ISI Web of Knowledge - 0 Citations

Scopus - 4 Citations

Other information

Authenticus ID: P-00P-K1T

DOI: 10.1159/000490535

Abstract (EN): Purpose: The aim of this study was to describe ophthalmological abnormalities in 14 cases of Wolfram syndrome belonging to 9 different families. Methods: Patients were submitted to a complete ophthalmological, neurological, otorhinolaryngological, urological, and genetic evaluation. Results: 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. Conclusions: Association of optic atrophy with insulin-dependent diabetes mellitus should raise the suspicion of Wolfram syndrome. (C) 2018 S. Karger AG, Basel

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 4