Test Your Genetics Knowledge
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Which of the following accurately describes Axenfeld Rieger Syndrome?

  • It can only occur sporadically
  • It only affects the cornea of the eye
  • It is a recessive genetic condition
  • It is caused by mutations in at least 4 different gene loci (correct)

    • What are some clinical characteristics of Axenfeld Rieger Syndrome?

  • It is only characterized by increased intraocular pressure
  • It causes vision loss due to damage to the optic nerve
  • It can cause corectopia and polycoria (correct)
  • It is a bilateral condition affecting the entire eye

    • What is the current status of gene therapy for genetic defects related to Axenfeld Rieger Syndrome?

  • It is not possible to diagnose genetic defects related to ARS early in embryonic life
  • It is only effective for certain mutations in PITX2
  • It is currently being tested in clinical trials (correct)
  • It has been sanctioned for general use on human patients

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