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ANIRIDIA (CLINICAL MANIFESTATIONS (The iris may be absent, with only a…
ANIRIDIA
Definition
refers to the absence of the iris, usually involving both eyes.
PATHOPHYSIOLOGY
The AN2 region of the short arm of chromosome 11 (11p13) includes the PAX6 gene (named for its PAired boX status), whose gene product helps regulate a cascade of other genetic processes involved in the development of the eye (as well as other non-ocular structures).[3] This PAX6 gene is around 95% similar to the pax gene found in zebrafish, a creature whose ancestors diverged from human evolutionary development around 400 million years ago. Thus the PAX6 gene is highly conserved across evolutionary lineages.
CLINICAL MANIFESTATIONS
The iris may be absent, with only a stump visible on gonioscopy
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MEDICAL MANAGEMENT
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In patients with severe phase 3 keratopathy, stabilizing the corneal surface involves replenishing limbal stem cells through transplantation.
Cataract extraction improves vision, but the surgeon should be prepared to manage complications in eyes with weak zonular fibers
Specialized intraocular lenses that incorporate an artificial iris diaphragm can be used to correct aniridia at the time of surgery.
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