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E. Bui Quoc, G. Dethorey, I. Ingster Moati; Cataract in Infants With Aniridia. Invest. Ophthalmol. Vis. Sci. 2009;50(13):4355.
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© ARVO (1962-2015); The Authors (2016-present)
Aniridia is a severe global eye dysgenesia, which affects all ocular components and the lens in particular. It originates from mutations in gene Pax 6 on chromosome11 on band p13. Almost three hundred mutations have been described so far. Deletions or microdeletions located in 11p13 can also cause aniridia, and also be responsible for WAGR syndrome. We present four cases of aniridia with or without cataract in infants and discuss the management of such a disease.
Patient 1 born April 2005 had a total aniridia due to a chromosomic deletion 46, XX, DEL (11) (P12P14). Bilateral glaucoma required non perforating trabeculectomy at the age of 12 days. Cataract surgery was performed on the left eye at the age of 23 months. No renal complication has been found so far. Mental retardation is suspected.Patient 2 born February 2006 had partial aniridia due to a mutation 357+1G>A of gene Pax 6. No glaucoma or cataract has been noted so far. Bilateral hyperopia has been diagnosed.Patient 3 born January 2007 had total aniridia due to a chromosomic deletion 46, XY, DEL (11) (P13). No glaucoma has been noted so far. Unilateral left cataract has not been operated so far. Bilateral myopia has been diagnosed. No renal complication has been found so far.Patient 4 born November 2005 had total aniridia due to a microdeletion 46, XX, DEL (11) (P13P13)(PAX6-, ELP4-, WT1x2). No glaucoma has been noted so far. Bilateral hyperopia has been diagnosed. Bilateral cataract does not yet requires surgery.
Patients with aniridia show different clinical characteristics. Due to the variety of genetic results, it is not easy to assess precise correlations between genotype and phenotype; it is assumed that cataract occurs in total aniridia; genetics are necessary in particular to decide whether a screening for nephroblastoma is required. Visual prognosis can be poor, because of glaucoma, cataract (the surgery of which is uneasy), but also late corneal opacifications.
Management of aniridia is not an easy task and require collaboration between several specialities : ophthalmology, genetics, neurology and nephrology. Cataract is frequent in total aniridia ; surgery is required only if the opacification of the lens is severe.
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