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Author

Tomoki Kinoshita

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Sep 2026

Norrie disease with asymmetric retinal severity associated with novel NDP variants.

INTRODUCTION Norrie disease (ND) is a severe X-linked retinal disorder caused by variants in the NDP gene and is typically characterized by bilateral total retinal detachment (RD) and blindness in infancy. We report three patients from two unrelated families with NDP-associated retinopathy carrying two NDP variants not...

Yuko Higashi, Tomoki Kinoshita, Itsuka Matsushita et al. · 0 citations

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