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  • Aniridia: for professionals

    Aniridia is a a pan-ocular bilateral congenital eye anomaly characterised by complete or partial iris hypoplasia, foveal hypoplasia and early-onset nystagmus. Patients with WT1 deletion are at risk of developing Wilms tumour.
  • Microphthalmia, anophthalmia, coloboma (MAC): for professionals

    MAC represents a spectrum of congenital ocular developmental defects that accounts for roughly 20% of childhood visual impairment. It is usually associated with other ocular abnormalities and systemic features.
  • BCOR gene

  • TBC1D20 gene

  • SOX2 gene

  • OTX2 gene

  • RAX gene

  • VSX2 gene

  • STRA6 gene

  • RARB gene

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