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September 10, 2025Investigative Ophthalmology & Visual ScienceOpen Access

RHO-Associated Retinitis Pigmentosa: Genetics, Phenotype, Natural History, Functional Assays, and Animal Model – In Preparation for Clinical Trials

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Authors

MVMalena Daich VarelaJRJuan C. Romo-AguasRGRosellina Guarascio

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Overview

Analysis of variants and phenotypes in 200 RHO-associated RP patients suggests significant implications for clinical trials.

Key Points

  • Generalized retinitis pigmentosa diagnosed in 64% of patients, indicating a significant phenotypic spectrum.
  • Longitudinal analysis showed slower visual acuity progression in sector RP (0.01 LogMAR/year) compared to generalized RP (0.03 LogMAR/year).
  • Functional assays and an animal model were employed in classifying variants, enhancing understanding of disease severity.
  • Identifying variants in RHO's natural history aids in therapeutic development and clinical endpoint identification.

Cite This Study

Varela et al. (2025) studied this question.

synapsesocial.com/papers/68c1a11f54b1d3bfb60dbc4dhttps://doi.org/10.1167/iovs.66.9.69
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