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Author

Katarina Stingl

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Open access Aug 2026

A mutation-agnostic and allele-specific ASO strategy demonstrates potent functional rescue and retinal preservation in RHO-linked retinitis pigmentosa

Autosomal dominant retinitis pigmentosa (adRP) caused by RHO mutations is a leading form of inherited retinal degeneration. Extensive allelic heterogeneity of RHO pathogenic variants limits the translational applicability of mutation-specific gene therapies. To address this, we developed SNARE (SNP-guided Silencing of...

Salome Spaag, Wen-Hsuan Wu, Justin Yun et al. · 1 citation
Open access Sep 2026

Biallelic RDH11 variants cause syndromic retinitis pigmentosa with early-onset cataracts and neurodevelopmental delay: a multicenter case series.

Biallelic variants in the RDH11 gene, a retinol dehydrogenase involved in the visual cycle and systemic retinoid homeostasis, were initially implicated in a rare condition characterized by retinal dystrophy, early-onset cataract, neurodevelopmental anomalies and myopathy, through single-family reports, with this associ...

Maria-Gerasimoula Karali, Susanne Kohl, F. Testa et al. · 0 citations
Open access Jul 2026

Single-cell analysis reveals impaired Müller glia-mediated intercellular communication and photoreceptor pathology in USH1C retinal organoids

It is demonstrated that disruption of Müller glia signaling contributes to an overall loss of retinal integrity, providing novel insights into USH1C pathogenesis and offering targets for therapeutic interventions.

Nicole Wenck, Mark Zorin, Qiang Wang et al. · 0 citations
Open access Jul 2026

Missense variants in KATNA1 alter microtubule dynamics and underlie dominant macular dystrophy

KATNA1 is established as a novel gene associated with adMD, possibly accounting for ~4% of all unresolved MD cases, and associate defective microtubule severing and cytoskeletal dysregulation with macular degeneration.

Carlo Rivolta, Karolina Kaminska, Abigail R. Moye et al. · 0 citations

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