Ophthalmologic Manifestations of Wolfram Syndrome: Report of 14 Cases

• Tipo: Artigo em Revista Científica Internacional
• Data: 2019

Autores

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

Revista

Título: Ophthalmologica

Vol. 241

Páginas: 116-119

ISSN: 0030-3755

Editora: Karger

Indexação

ISI Web of Knowledge - 0 Citações

Scopus - 4 Citações

Outras Informações

ID Authenticus: 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

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 4