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Questions and Answers
Which of the following accurately describes Axenfeld Rieger Syndrome?
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?
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?
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
