Andreia Soares1, Ágata Mota2, Sofia Fonseca3, Olinda Faria4, Elisete Brandão4, Fernando Falcão Dos Reis4, Rita Gentil5, Sandra Guimarães5, Luís Mendonça5. 1. Department of Ophthalmology, Hospital de Braga, Braga, Portugalandreiafilipa.brsoares@gmail.com. 2. Department of Ophthalmology, Hospital Pedro Hispano, Matosinhos, Portugal. 3. Department of Ophthalmology, Centro Hospitalar de Vila Nova de Gaia, Gaia, Portugal. 4. Department of Ophthalmology, Centro Hospitalar de São João, Porto, Portugal. 5. Department of Ophthalmology, Hospital de Braga, Braga, Portugal.
Abstract
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.
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.
Authors: Ian C Han; Justine L Cheng; Erin R Burnight; Christy L Ralston; Jessica L Fick; Gabriella J Thomsen; Emilio F Tovar; Stephen R Russell; Elliott H Sohn; Robert F Mullins; Edwin M Stone; Budd A Tucker; Luke A Wiley Journal: Hum Gene Ther Date: 2020-10-20 Impact factor: 5.695