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Aniridia

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on 21 November 2013

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Transcript of Aniridia

ANIRIDIA
Different Types
Congenital - have had since birth
Genetic - passed from generation to generation
Sporadic - random, not from a parent or ancestor
Acquired - caused by trauma or traumatic event
Aniridia also can lead to:
Glaucoma - increased pressures in the eye
Cataracts - clouding of the lens of the eye
Corneal Hazing - discoloring of the eye
Stem cell deficiency - Cells dying rapidly
Nystagmus - involuntary eye movements
Most cases are not degenerate (gets worse over time), but in the cases that they are, those affected would eventually some, most, or all of their sight.
Children born from a parent with aniridia have a 50% chance of having it as well.
Aniridia is also associated with Wilms' tumor, a cancer in the kidney.
90% of patients with aniridia are also overweight.
Literally meaning "without iris" except it affects more than just the iris.
Aniridia
HOW?
Aniridia is caused by a mutation of the
PAX6
gene which provides instructions for the production of protein that is involved in the early development of the eyes, central nervous system, and pancreas.
The
PAX6
protein binds to specific regions of DNA and regulates the activity of other genes.
Mutations in the
PAX6
gene result in the production of a nonfunctional
PAX6
protein that is unable to bind to DNA and regulate the activity of other genes. A lack of functional
PAX6
protein disrupts the formation of the eyes during embryonic development.
Links
Glaucoma - http://www.showecho.com/theater/ee4f17ae-4bb2-11e3-80c6-22000ab99cee

Cataracts - http://www.showecho.com/theater/9a811c76-4bb2-11e3-80c6-22000ab99cee
Object Lesson: Eye
Glaucoma
Cataracts
Stem Cell Deficiency
Corneal Hazing
Nystagmus
Anatomy of the Eye
Full transcript