Phenotypic features of EYS-associated retinitis pigmentosa with the c.2528 G > A (p.Gly843Glu) mutation in a Japanese cohort

Abstract Eyes shut homolog (EYS) is an eye-specific gene that encodes a protein essential for maintaining photoreceptor integrity. The aim of this study was to identify the parameters that characterize the clinical features of EYS-associated retinitis pigmentosa (RP) in patients carrying the c.2528G...

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Autors principals:	Kensuke Muto, Ai Fujita Sajiki, Kensuke Goto, Yuki Kimura, Junya Ota, Hiroaki Ushida, Kazuhisa Yamada, Koji M. Nishiguchi, Taro Kominami
Format:	Artigo
Idioma:	Inglês
Publicat:	Nature Portfolio 2026-04-01
Col·lecció:	Scientific Reports
Matèries:	EYS Genotype Retinitis pigmentosa c.2528G > A p.Gly843Glu G843E
Accés en línia:	https://doi.org/10.1038/s41598-026-46464-3
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