Prevalence estimates and genetic diversity for autosomal dominant retinitis pigmentosa due to RHO, c. 68C> A (p. P23H) variant

M Leenders, M Gaastra, A Jayagopal… - American Journal of …, 2024 - Elsevier
Objective To provide the most up-to-date clinical prevalence estimate for autosomal
dominant retinitis pigmentosa (adRP) patients due to RHO c. 68C> A,(p. P23H) in the United …

[HTML][HTML] RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape

G Trastulli, D Megalizzi, G Calvino, S Andreucci… - Genes, 2024 - mdpi.com
Autosomal dominant retinitis pigmentosa (AD-RP) is caused by several genes, among which
RHO is one of the most investigated. This article will be focused on RHO and its role in …

Characteristics of Retinal Vascular Degeneration and the Expression of Vessel-Related Claudin Proteins in Retinal Degeneration Mouse

A Wang, J Zhou, Y Hong, Y Cui, Y Wang, J Pan… - Ophthalmic …, 2024 - karger.com
Introduction: This study aimed to investigate the characteristics of retinal vascular
degeneration and the expression of vessel-related Claudin (CLD) proteins in retinal …

Autosomal dominant Retinitis Pigmentosa caused by the rhodopsin isoleucine 255 deletion features rapid neuroretinal degeneration, decreased synaptic connectivity …

B Cao, Y Zhu, A Gunter, E Kilger, S Bolz, C Hennes… - bioRxiv, 2024 - biorxiv.org
Retinitis Pigmentosa (RP) is a group of inherited retinal diseases that initially affects rod
photoreceptors and causes progressive vision loss and blindness. Mutations in rhodopsin …