Aniridia, another ocular developmental disorder, is frequently associated with glaucoma. It occurs in an autosomal dominant inheritance pattern or sporadically. The autosomal dominant form is associated with missense mutations in paired box gene 6 (PAX6), whereas the sporadic form is associated with large deletions or rearrangements involving the same gene, which encodes a transcription factor important for ocular development. Sporadic cases of aniridia caused by large deletions of chromosome 11p13, which includes PAX6, can cause a syndrome comprising Wilms tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR syndrome). Patients with large deletions that involve the closely linked Wilms tumor suppressor gene (WT1) are at risk for developing Wilms tumor. Therefore, persons with sporadic aniridia should be tested for 11p13 deletions to determine if screening for Wilms tumor is required.
Excerpted from BCSC 2020-2021 series: Section 10 - Glaucoma. For more information and to purchase the entire series, please visit https://www.aao.org/bcsc.