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Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia (see this term) and cataracts. Can aniridia be cured? Unfortunately, there isRead More →

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Most forms of isolated aniridia are caused by harmful changes (mutations) in the PAX6 gene causing it to not work normally. This condition typically follows an autosomal dominant pattern. Most people with aniridia have a parent with aniridia. Some patients appear to have a spontaneous, new genetic variant. Is aniridiaRead More →