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Optic Atrophy
Loss of Function

Optic Atrophy

  • Genotype

    Opa1 

  • Mechanism

    Loss of Function

  • Phenotype

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

  • Biomarker

    NfL, ATP levels, GFAP, S100β

  • Gene Expression Markers

    dnm1l, nd1, nd4, nrf2, TNF-α, IL-6, gap43

  • Physiology Changes

    ERG - a-wave and b-wave, Visual Evoked Potential, Altered activity patterns

  • Histology Grading Endpoint

    Reduced RGC density in ganglion cell layer, Axonal loss in optic nerve, Axonal swelling, Demyelination, Thinning of inner retinal layers, Loss of synaptic density

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