Literature DB >> 22692063

Aniridia.

Melanie Hingorani1, Isabel Hanson, Veronica van Heyningen.   

Abstract

Aniridia is a rare congenital disorder in which there is a variable degree of hypoplasia or the absence of iris tissue associated with multiple other ocular changes, some present from birth and some arising progressively over time. Most cases are associated with dominantly inherited mutations or deletions of the PAX6 gene. This article will review the clinical manifestations, the molecular basis including genotype-phenotype correlations, diagnostic approaches and management of aniridia.

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Year:  2012        PMID: 22692063      PMCID: PMC3449076          DOI: 10.1038/ejhg.2012.100

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN: 1018-4813            Impact factor:   4.246


  57 in total

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Journal:  Am J Ophthalmol       Date:  2005-12       Impact factor: 5.258

2.  End stage renal disease in patients with Wilms tumor: results from the National Wilms Tumor Study Group and the United States Renal Data System.

Authors:  Norman E Breslow; Allan J Collins; Michael L Ritchey; Yevgeny A Grigoriev; Susan M Peterson; Daniel M Green
Journal:  J Urol       Date:  2005-11       Impact factor: 7.450

Review 3.  WAGR syndrome: a clinical review of 54 cases.

Authors:  Bernard V Fischbach; Kelly L Trout; Julia Lewis; Catherine A Luis; Mohammed Sika
Journal:  Pediatrics       Date:  2005-10       Impact factor: 7.124

4.  Heterozygous FOXC1 mutation (M161K) associated with congenital glaucoma and aniridia in an infant and a milder phenotype in her mother.

Authors:  Arif O Khan; Mohammad A Aldahmesh; Abdullah Al-Amri
Journal:  Ophthalmic Genet       Date:  2008-06       Impact factor: 1.803

Review 5.  Aniridia: current pathology and management.

Authors:  Helena Lee; Rizwana Khan; Michael O'Keefe
Journal:  Acta Ophthalmol       Date:  2008-10-06       Impact factor: 3.761

6.  Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia.

Authors:  David O Robinson; Rachel J Howarth; Kathleen A Williamson; Veronica van Heyningen; Sarah J Beal; John A Crolla
Journal:  Am J Med Genet A       Date:  2008-03-01       Impact factor: 2.802

7.  Brain-derived neurotrophic factor and obesity in the WAGR syndrome.

Authors:  Joan C Han; Qing-Rong Liu; MaryPat Jones; Rebecca L Levinn; Carolyn M Menzie; Kyra S Jefferson-George; Diane C Adler-Wailes; Ethan L Sanford; Felicitas L Lacbawan; George R Uhl; Owen M Rennert; Jack A Yanovski
Journal:  N Engl J Med       Date:  2008-08-28       Impact factor: 91.245

8.  Complete sex reversal in a WAGR syndrome patient.

Authors:  Cedric Le Caignec; Capucine Delnatte; Joris R Vermeesch; Michelle Boceno; Madeleine Joubert; Francoise Lavenant; Albert David; Jean-Marie Rival
Journal:  Am J Med Genet A       Date:  2007-11-15       Impact factor: 2.802

9.  Raised risk of Wilms tumour in patients with aniridia and submicroscopic WT1 deletion.

Authors:  Veronica van Heyningen; Jan M N Hoovers; Jan de Kraker; John A Crolla
Journal:  J Med Genet       Date:  2007-07-14       Impact factor: 6.318

10.  Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders.

Authors:  Egbert J W Redeker; Annette S H de Visser; Arthur A B Bergen; Marcel M A M Mannens
Journal:  Mol Vis       Date:  2008-05-07       Impact factor: 2.367

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  70 in total

1.  Pax6 organizes the anterior eye segment by guiding two distinct neural crest waves.

Authors:  Masanari Takamiya; Johannes Stegmaier; Andrei Yu Kobitski; Benjamin Schott; Benjamin D Weger; Dimitra Margariti; Angel R Cereceda Delgado; Victor Gourain; Tim Scherr; Lixin Yang; Sebastian Sorge; Jens C Otte; Volker Hartmann; Jos van Wezel; Rainer Stotzka; Thomas Reinhard; Günther Schlunck; Thomas Dickmeis; Sepand Rastegar; Ralf Mikut; Gerd Ulrich Nienhaus; Uwe Strähle
Journal:  PLoS Genet       Date:  2020-06-17       Impact factor: 5.917

2.  Xenopus pax6 mutants affect eye development and other organ systems, and have phenotypic similarities to human aniridia patients.

Authors:  Takuya Nakayama; Marilyn Fisher; Keisuke Nakajima; Akinleye O Odeleye; Keith B Zimmerman; Margaret B Fish; Yoshio Yaoita; Jena L Chojnowski; James D Lauderdale; Peter A Netland; Robert M Grainger
Journal:  Dev Biol       Date:  2015-02-25       Impact factor: 3.582

3.  Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.

Authors:  Sylvie Gerber; Kamil J Alzayady; Lydie Burglen; Dominique Brémond-Gignac; Valentina Marchesin; Olivier Roche; Marlène Rio; Benoit Funalot; Raphaël Calmon; Alexandra Durr; Vera Lucia Gil-da-Silva-Lopes; Maria Fernanda Ribeiro Bittar; Christophe Orssaud; Bénédicte Héron; Edward Ayoub; Patrick Berquin; Nadia Bahi-Buisson; Christine Bole; Cécile Masson; Arnold Munnich; Matias Simons; Marion Delous; Helene Dollfus; Nathalie Boddaert; Stanislas Lyonnet; Josseline Kaplan; Patrick Calvas; David I Yule; Jean-Michel Rozet; Lucas Fares Taie
Journal:  Am J Hum Genet       Date:  2016-04-21       Impact factor: 11.025

4.  Aberrant visual pathway development in albinism: From retina to cortex.

Authors:  Sarim Ather; Frank Anthony Proudlock; Thomas Welton; Paul S Morgan; Viral Sheth; Irene Gottlob; Rob A Dineen
Journal:  Hum Brain Mapp       Date:  2018-12-04       Impact factor: 5.038

5.  Novel variants in PAX6 gene caused congenital aniridia in two Chinese families.

Authors:  R Zhang; S Linpeng; X Wei; H Li; Y Huang; J Guo; Q Wu; D Liang; L Wu
Journal:  Eye (Lond)       Date:  2017-02-03       Impact factor: 3.775

6.  Inositol 1,4,5-trisphosphate Receptor Mutations associated with Human Disease.

Authors:  Lara E Terry; Kamil J Alzayady; Esraa Furati; David I Yule
Journal:  Messenger (Los Angel)       Date:  2018-06

7.  Outer retinal deformity detected by optical coherence tomography in eyes with foveal hypoplasia.

Authors:  Satoshi Katagiri; Tadashi Yokoi; Masashi Mikami; Sachiko Nishina; Noriyuki Azuma
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2016-05-23       Impact factor: 3.117

8.  Toward postnatal reversal of ocular congenital malformations.

Authors:  José-Alain Sahel; Katia Marazova
Journal:  J Clin Invest       Date:  2013-12-20       Impact factor: 14.808

Review 9.  Establishing the pre-placodal region and breaking it into placodes with distinct identities.

Authors:  Jean-Pierre Saint-Jeannet; Sally A Moody
Journal:  Dev Biol       Date:  2014-02-24       Impact factor: 3.582

10.  Two sisters with microphthalmia and anterior segment dysgenesis secondary to a PAX6 pathogenic variant with clinically healthy parents: a case of gonadal mosaicism?

Authors:  Anna Wawrocka; Joanna Walczak-Sztulpa; Ewelina Bukowska-Olech; Aleksander Jamsheer; Marcin Jaworski; Piotr Jaworski; Maciej Robert Krawczynski
Journal:  Jpn J Ophthalmol       Date:  2020-02-03       Impact factor: 2.447

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