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Review
. 2014 Oct 29:2014:305350.
doi: 10.1155/2014/305350. eCollection 2014.

Congenital Aniridia: Clinic, Genetics, Therapeutics, and Prognosis

Pedro Calvão-Pires  1 , R Santos-Silva  2 , F Falcão-Reis  2 , A Rocha-Sousa  2
Affiliations
Review

Congenital Aniridia: Clinic, Genetics, Therapeutics, and Prognosis

Pedro Calvão-Pires et al. Int Sch Res Notices. .

Abstract

Congenital aniridia is a rare condition related to a deficiency in the PAX6 gene expression, which may occur as a result of a family inheritance or a sporadic occurrence. Additionally, this condition may occur as an isolated ocular phenotype or in association with a systemic syndrome. The most common abnormality is iris hypoplasia; however, a panocular disease which also affects the cornea, anterior chamber of the eye, lens, and the posterior segment with presence of optic nerve and foveal hypoplasia is also evident. The development of keratopathy, glaucoma, and cataract is frequent and its presence has implications in the patient's visual acuity. Managing aniridia is challenging since the focus is on treating the previously mentioned disorders, and the outcomes are often disappointing. In this paper, we shall review the epidemiology, pathophysiology, and clinical characteristics of patients with aniridia. We shall also make a review of the therapeutic options for the several conditions affecting this syndrome and consider the genetics and prognostic factors.

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Figures

Figure 1
Figure 1
Mild keratopathy in patient with limbal insufficiency.
Figure 2
Figure 2
Anterior segment of patient with aniridia at retroillumination.
Figure 3
Figure 3
Boston type I keratoprosthesis (image rights to Claes H. Dohlman M.D., Ph.D.).
Figure 4
Figure 4
Anterior segment of patient with aniridia by retroillumination.
Figure 5
Figure 5
Aniridia Implant Morcher 67F and Aniridia Ring type 50C, respectively (adapted from MORCHER Implants website).
Figure 6
Figure 6
Moderate foveal hypoplasia in patient with aniridia.
See this image and copyright information in PMC

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