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Research Article Open access CC BY 4.0

Wolfram Syndrome: Report of Three Siblings with Early Vision Loss and Documented Lesion of the Entire Visual Pathway

Brunella Maria Pavan Taffner, Patricia Grativol Costa Saraiva, Fábio Petersen Saraiva

Ophthalmology Research: An International Journal · pp. 131–137 · Published 17 Sep 2015

10.9734/OR/2015/20537

Abstract

Objective: Report and document in images the presence of WFS1 in three of four siblings, with loss of visual acuity as the initial clinical presentation. Design: Case series study. Participants: Three of four siblings with WFS born to consanguineous parents. Methods: All patients had diagnostic imaging with contrast-enhanced brain magnetic resonance imaging (MRI) and digital retinography. Results: The patients and their father reported vision loss since before the age of seven, backed up by reports of multiple unsuccessful prescriptions for glasses and poor first-grade school performance due to visual deficit. Diabetes mellitus was diagnosed at seven years of age. All patients presented bilateral neurosensory deafness, atrophy of the posterior pituitary lobe, cerebellum, nerve, chiasma, optic tract and optic disc (bilateral), as well as urological changes and gait and balance disorders. One patient is epileptic and another suffers from a combination of anxiety and depression. Conclusion: Three unique cases of WFS due to early loss of visual acuity, lesion of the entire visual pathway documented in images, and an unusually high level of familial penetrance.  

Wolfram syndrom optic atrophy rare diseases

References (12)

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  5. 5 Sodium-potassium ATPase 1 subunit is a molecular partner of Wolframin, an endoplasmic reticulum protein involved in ER stress [DOI]
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Gema Esteban-Bueno, L. Botella, J. L. Fernández-Martínez · Diagnostics · 2025

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