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What is Aniridia is associated with: and explain in detail?
Aniridia and Wilm's tumor (nephroblastoma) are components of a rare genetic syndrome - WAGR syndrome W - Wilm's tumor A - Aniridia G - Genitourinary problems R - Mental Retardation Aniridia is a condition of complete or paial iris hypoplasia and foveal hypoplasia, resulting in reduced visual acuity and nystagmus. It may be found in isolation or in association with other syndromes. PAX6 is present on band p13 of chromosome 11, and its mutation results in aniridia. Syndromes associated with Aniridia: Miller syndrome Aniridia associated wilm's tumor WAGR syndrome Wilm's tumor, aniridia, genital abnormalities and mental retardation Gillespie's syndrome Aniridia, mental retardation and cerebellar ataxia Axenfeld-Rieger syndrome Iris hypoplasia, corectopia and polycoria. Ref: Yanoff & Duker's Opthalmology, 3rd Edition, Page 1208.