Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy

Abstract 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’, e...

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書誌詳細

出版年:	Scientific Reports
主要な著者:	Cansu de Muijnck, Lonneke Haer-Wigman, Judith A. M. van Everdingen, Tanya Lushchyk, Pam A. T. Heutinck, Marieke F. van Dooren, Anneke J. A. Kievit, Virginie J. M. Verhoeven, Marleen E. H. Simon, Rosemarie A. Wasmann, Irene C. Notting, Elfride De Baere, Sophie Walraedt, Julie De Zaeytijd, Filip Van den Broeck, Bart P. Leroy, Camiel J. F. Boon, Maria M. van Genderen
フォーマット:	論文
言語:	英語
出版事項:	Nature Portfolio 2024-10-01
主題:	WFS1 Optic atrophy OPA1 DOA Inherited optic neuropathy
オンライン･アクセス:	https://doi.org/10.1038/s41598-024-74364-x