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Retinitis Pigmentosa Type 11
Loss of Function

Retinitis Pigmentosa Type 11

  • Genotype

     PRPF31

  • Mechanism

    Loss of Function

  • Phenotype

    Visual acuity, Night vision, Varying light response, Optokinetic response, Optomotor response, Exploratory activity, Feeding behavior, Anxiety

  • Biomarker

    Rhodopsin, GFAP, PSD-95, S100β

  • Gene Expression Markers

    prpf3, prpf8, gnat1, gnat2, casp3, nrf2, rpe65

  • Physiology Changes

    ERG - scotopic (rod-mediated) responses, photopic (cone-mediated) responses, Altered day–night activity patterns

  • Histology Grading Endpoint

    Loss of rod photoreceptors, Progressive cone degeneration, Thinning of ONL, RPE degeneration, Loss of laminar structure, Microglial activation

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