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ANIRIDIA [https://medlineplus.gov>] - Coggle Diagram
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causes
it is caused by mutations in the PAX6 gene. the PAX6 gene provides instructions for making a protein that is involved in the early development of the eyes, brain and spinal cord ( central nervous system) and the pacreas.
clinical manifestations
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fast, controlled, shaking to and from the eye movements(nystagmus)
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pathophysiology
the exact pathogenesis of aniridia is unkown. after early reports of ocular colobomas in patients with aniridia, some authors proposed that it is a colobomatous disorder.
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