Aniridia Workup

Updated: Jul 19, 2019
  • Author: Michael Ross, MD; Chief Editor: Michael Taravella, MD  more...
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Laboratory Studies

Chromosomal deletion is detected by cytogenetic testing with the use of high-resolution banding.

Submicroscopic deletions of the Wilms tumor gene are recognized with a fluorescent in situ hybridization (FISH) technique.

High-resolution chromosome studies are obtained in sporadic cases to determine if there is a deletion of band 11p13.

Serial renal ultrasound examinations are indicated in patients through age 7 years, especially for those with a deletion of band 11p13 or for those with a negative family history of aniridia and normal chromosomes. [17]


Histologic Findings

Histologically, small portions of the iris are always present; the ciliary body is usually hypoplastic; and the anterior chamber angle may be normal, immature (ie, incompletely developed), or malformed. In eyes enucleated from older patients, extensive peripheral anterior synechiae that cause the iris stump to adhere to the posterior corneal surface have been observed.