Truncating Variants Contribute to Hearing Loss and Severe Retinopathy in <i>USH2A</i>-Associated Retinitis Pigmentosa in Japanese Patients

Truncating Variants Contribute to Hearing Loss and Severe Retinopathy in <i>USH2A</i>-Associated Retinitis Pigmentosa in Japanese Patients

<i>USH2A</i> is a common causal gene of retinitis pigmentosa (RP), a progressive blinding disease due to retinal degeneration. Genetic alterations in <i>USH2A</i> can lead to two types of RP, non-syndromic and syndromic RP, which is called Usher syndrome, with impairments of...

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Bibliographic Details
Main Authors: Akira Inaba, Akiko Maeda, Akiko Yoshida, Kanako Kawai, Yasuhiko Hirami, Yasuo Kurimoto, Shinji Kosugi, Masayo Takahashi
Format: Article
Language:English
Published: MDPI AG 2020-10-01
Series:International Journal of Molecular Sciences
Subjects:
retinitis pigmentosa
Usher syndrome
<i>USH2A</i>
inherited retinal degeneration
clinical sequence
Online Access:https://www.mdpi.com/1422-0067/21/21/7817

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https://www.mdpi.com/1422-0067/21/21/7817

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