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Stargardt Disease
Loss of Function

Stargardt Disease

  • Genotype

    ABCA4 KO

  • Mechanism

    Loss of Function

  • Phenotype

    Visual motor response, Optokinetic response, Optomotor response, Varying light response, Sensitivity to light, Feeding behavior, Exploratory behavior

  • Biomarker

    Bisretinoids, Complement Factor H, RPE65 protein, Rhodopsin

  • Gene Expression Markers

    abca4, rdh5 / rdh8, gnat1, pde6a, nrf2, bcl-2

  • Physiology Changes

    ERG - a-wave amplitude, b-wave amplitude, High-frequency stimulus

  • Histology Grading Endpoint

    Severe ONL thinning, Photoreceptor loss, RPE disruption with patchy loss, Heavy lipofuscin accumulation, Retinal layer collapse

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