Literature DB >> 31560925

Aniridia and Axenfeld-Rieger Syndrome: Clinical presentations, molecular genetics and current/emerging therapies.

Paul W Chrystal1, Michael A Walter2.   

Abstract

Aniridia and Axenfeld-Rieger Syndrome are related, human ocular disorders that are typically inherited in an autosomal dominant manner. Both result from incorrect development of the eye and have, as their most serious consequences, elevated risk to develop the blinding condition glaucoma. This review will focus on describing the clinical presentations of Aniridia and Axenfeld-Rieger Syndrome as well as the molecular genetics and current and emerging therapies used to treat patients. Crown
Copyright © 2019. Published by Elsevier Ltd. All rights reserved.

Entities:  

Keywords:  Anterior segment; Inherited; Transcription factors; Treatment

Mesh:

Substances:

Year:  2019        PMID: 31560925     DOI: 10.1016/j.exer.2019.107815

Source DB:  PubMed          Journal:  Exp Eye Res        ISSN: 0014-4835            Impact factor:   3.467


  7 in total

1.  Axenfeld-Rieger syndrome combined with a foveal anomaly in a three-generation family: a case report.

Authors:  Kinga Gołaszewska; Natalia Dub; Emil Saeed; Zofia Mariak; Joanna Konopińska
Journal:  BMC Ophthalmol       Date:  2021-03-29       Impact factor: 2.209

2.  The Axenfeld-Rieger Syndrome Gene FOXC1 Contributes to Left-Right Patterning.

Authors:  Paul W Chrystal; Curtis R French; Francesca Jean; Serhiy Havrylov; Suey van Baarle; Ann-Marie Peturson; Pengfei Xu; J Gage Crump; David B Pilgrim; Ordan J Lehmann; Andrew J Waskiewicz
Journal:  Genes (Basel)       Date:  2021-01-26       Impact factor: 4.096

3.  First Results from the Prospective German Registry for Childhood Glaucoma: Phenotype-Genotype Association.

Authors:  Julia V Stingl; Stefan Diederich; Heidi Diel; Alexander K Schuster; Felix M Wagner; Panagiotis Chronopoulos; Fidan Aghayeva; Franz Grehn; Jennifer Winter; Susann Schweiger; Esther M Hoffmann
Journal:  J Clin Med       Date:  2021-12-21       Impact factor: 4.241

Review 4.  A novel missense mutation of FOXC1 in an Axenfeld-Rieger syndrome patient with a congenital atrial septal defect and sublingual cyst: a case report and literature review.

Authors:  Kaiming Li; Min Tang; Manhua Xu; Yinggui Yu
Journal:  BMC Med Genomics       Date:  2021-10-29       Impact factor: 3.063

5.  Case report: Congenital mitral and tricuspid valve insufficiency in a patient with Axenfeld-Rieger syndrome.

Authors:  Jingwei Feng; Yingjiao Wang; Shiyu Cheng; Zishuo Liu; Ling Lan; Qi Miao; Chaoji Zhang
Journal:  Front Cardiovasc Med       Date:  2022-09-23

Review 6.  Ocular genetics in the genomics age.

Authors:  Michael A Walter; Tayebeh Rezaie; Robert B Hufnagel; Gavin Arno
Journal:  Am J Med Genet C Semin Med Genet       Date:  2020-09-08       Impact factor: 3.359

Review 7.  Glaucoma Syndromes: Insights into Glaucoma Genetics and Pathogenesis from Monogenic Syndromic Disorders.

Authors:  Daniel A Balikov; Adam Jacobson; Lev Prasov
Journal:  Genes (Basel)       Date:  2021-09-11       Impact factor: 4.096

  7 in total

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