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  • Cone/Cone-rod dystrophy: for professionals

    Cone or cone-rod dystrophies encompasses a group of progressive inherited retinal dystrophies characterised by predominant impairment of cone-mediated vision. This may be accompanied by rod dysfunction. It can be an isolated phenotype or associated with systemic features (Alstrom syndrome and Bardet-Biedl syndrome).
  • Cone/Cone-rod dystrophy: for patients

    Cone dystrophy and cone-rod dystrophy describe a group of inherited retinal disease that primarily affects of the normal cone photoreceptors of the retina. This results in reduced central vision and difficulty in recognising colours.
  • Stargardt disease: for patients

    Stargardt disease is the most common form of inherited macular degeneration. It is caused by mutations in the ABCA4 gene, resulting in progressive vision.
  • ABCA4-retinopathy: for professionals

    ABCA4-retinopathies encompass various retinal phenotypes associated with homozygous or compound heterozygous mutations in the ABCA4 gene. It could present as an isolated macular dystrophy, or a more generalised retinal dystrophy.

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