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Research Paper | Ophthalmology | India | Volume 10 Issue 5, May 2021 | Popularity: 5.1 / 10
Curtainless Windows - Approach to a Case of Aniridia
Dr. Manmeet Singh, Dr. Manoj Gupta, Dr. Ruminder Kaur
Abstract: Introduction: Aniridia is a rare familial or sporadic disorder incidence between 1:64000 and 1:100000 affecting not only the iris but also the cornea, angle structures, lens, optic nerve and fovea and is associated with PAX-6 gene mutations. [1] In upto 85% cases, it is inherited as an autosomal dominant manner, with high penetrance, which consists of at least two-third cases of congenital aniridia. However, in up to 30% of aniridia patients, disease results from chromosomal rearrangements at the 11p13 region. [2] Congenital aniridia is described as partial or total absence of iris, but gonioscopy differentiates the two. [3] Sporadic congenital aniridia whether complete or partial is due to the de-novo mutation in the aforesaid PAX-6 gene and may consist of 13-33% of cases of aniridia. [4] It can be even traumatic in etiology but usually bilateral and symmetrical presentation will never be seen. This disorder may be associated with many other systemic abnormalities such as urogenital malignancies or WAGR syndrome (Wilms tumor-Aniridia-Genital Anomalies-Retardation).
Keywords: Aniridia, WAGR syndrome, gonioscopy
Edition: Volume 10 Issue 5, May 2021
Pages: 459 - 461
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