Author

Sylvia Bolz

3 papers indexed here

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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. · bioRxiv · 1 citation

Open access Sep 2026

VCP inhibition prevents cone photoreceptor degeneration in the cpfl1 mouse model of achromatopsia

Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by absent cone photoreceptor function from early life, leading to severe visual impairment. Mutations in genes involved in the cone phototransduction cascade frequently result in elevated cyclic guanosine monophosphate (cGMP) levels and a...

Ana C. Almansa-Garcia, Bo-Wen Cao, Anne-Sophie Petremann-Dumé et al. · bioRxiv · 0 citations

Open access Aug 2026

VCP inhibition preserves photoreceptor integrity under hydroquinone-induced oxidative stress in a human iPSC-RPE/porcine neuroretina co-culture model

The iPSC-RPE/neuroretina co-culture is established as a platform to analyse pathophysiological features of AMD, dissect cell type-specific retinal responses to environmental stress and test neuroprotective pharmacological approaches to protect photoreceptors in oxidative stress-associated retinal degeneration.

Ana C. Almansa-Garcia, A. Armento, Shibu Antony et al. · bioRxiv · 0 citations