منابع مشابه
Congenital Aniridia
Aniridia is a rare bilateral condition that may have life-threatening associations. It occurs as a result of abnormal neuroectodermal development secondary to a mutation in the PAX6 gene linked to 11p13. This gene controls the development of a number of structures, hence the broad nature of ocular and systemic associations.This article presents a review of congenital aniridia including epidemio...
متن کاملRenal failure in the Denys-Drash and Wilms' tumor-aniridia syndromes.
Nearly 6000 patients enrolled in four clinical trials of the National Wilms' Tumor Study Group during 1969-1995 were followed until death or for a median of 11.0 years of survival for the onset of renal failure (RF). Thirteen of 22 patients with Denys-Drash syndrome and 10 of 46 patients with the Wilms' tumor aniridia syndrome developed RF. The cumulative risks of RF at 20 years from Wilms' tum...
متن کاملClinical manifestations of congenital aniridia.
PURPOSE To study the various clinical manifestations associated with congenital aniridia in an Indian population. METHODS In this retrospective, consecutive, observational case series, all patients with the diagnosis of congenital aniridia seen at the institute from January 2005 to December 2010 were reviewed. In all patients, the demographic profile, visual acuity, and associated systemic an...
متن کاملMolecular analysis of chromosome 11 deletions in aniridia-Wilms tumor syndrome.
We describe five individuals who have constitutional deletions of the short arm of one chromosome 11, including all or part of the band p13. All of these individuals suffer from aniridia; two have had a Wilms tumor removed. We have established lymphoblastoid cell lines from these and in three cases constructed somatic cell hybrids containing the deleted chromosome 11. Analysis of DNA from the c...
متن کاملCongenital Aniridia: Clinic, Genetics, Therapeutics, and Prognosis
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, ant...
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ژورنال
عنوان ژورنال: CA: A Cancer Journal for Clinicians
سال: 1969
ISSN: 0007-9235
DOI: 10.3322/canjclin.19.5.289