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Article

Disease modeling and pharmacological rescue of autosomal dominant Retinitis Pigmentosa associated with <i>RHO</i> copy number variation

2023-03-02

Abstract excerpt

Retinitis pigmentosa (RP), a heterogenous group of inherited retinal disorder causes slow progressive vision loss with no effective treatments available. Mutations in the rhodopsin gene ( RHO ), account for ∼25% cases of autosomal dominant RP (adRP). In this study, we describe the disease characteristics of the first ever reported mono-allelic copy number variation (CNV) in RHO as a novel cause of adRP. We (1) s...

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Literature Corpus work
1061b43b-0d08-5921-9f8b-7979b9cb77a2
DOI
10.1101/2023.02.27.23286248
Open publication

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Disease modeling and pharmacological rescue of autosomal dominant Retinitis Pigmentosa associated with <i>RHO</i> copy number variationDOI 10.1101/2023.02.27.23286248
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