Article
Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy.
Scientific reports - 3 Oct 2024
de Muijnck Cansu, Haer-Wigman Lonneke, van Everdingen Judith A M, Lushchyk Tanya, Heutinck Pam A T, van Dooren Marieke F, Kievit Anneke J A, Verhoeven Virginie J M, Simon Marleen E H, Wasmann Rosemarie A, Notting Irene C, De Baere Elfride, Walraedt Sophie, De Zaeytijd Julie, Van den Broeck Filip, Leroy Bart P, Boon Camiel J F, van Genderen Maria M
Abstract excerpt
This study aims to describe the ophthalmic characteristics of autosomal dominant (AD) WFS1-associated optic atrophy (AD WFS1-OA), and to explore phenotypic differences with dominant optic atrophy (DOA) caused by mutations in the OPA1-gene. WFS1-associated diseases, or 'wolframinopathies', exhibit a spectrum of ocular and systemic phenotypes, of which the autosomal recessive Wolfram syndrome has been the most...
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