Literature DB >> 35574169

Bilateral Non-Arteritic Anterior Ischaemic Optic Neuropathy in a Patient with a COL4A2 Mutation.

Kasim Qureshi1, Muhammad U Farooq1, Avneet Deol2, Christopher Glisson1, Philip B Gorelick3.   

Abstract

Non-arteritic anterior ischaemic optic neuropathy (NAION) is a common cause of vision loss in adults and is thought to be due to compromised perfusion to the optic nerve head. Patients with NAION in one eye are at risk of recurrence in the fellow eye. We report a case of sequential, bilateral NAION in a patient who was found to have a COL4A2 mutation. COL4A2 encodes a subunit of the collagen 4 protein, the major component of the human basement membranes, and has several known cerebrovascular and ocular associations.
© 2021 Taylor & Francis Group, LLC.

Entities:  

Keywords:  COL4A2; Non-arteritic anterior ischaemic optic neuropathy; collagen vascular disease

Year:  2021        PMID： 35574169      PMCID： PMC9103496          DOI： 10.1080/01658107.2021.1992447

Source DB:  PubMed          Journal:  Neuroophthalmology        ISSN： 0165-8107


  22 in total

1.  Dominant mutations of Col4a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathy.

Authors:  Tom Van Agtmael; Ursula Schlötzer-Schrehardt; Lisa McKie; David G Brownstein; Angela W Lee; Sally H Cross; Yoshikazu Sado; John J Mullins; Ernst Pöschl; Ian J Jackson
Journal:  Hum Mol Genet       Date:  2005-09-13       Impact factor: 6.150

2.  COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.

Authors:  Marion Jeanne; Cassandre Labelle-Dumais; Jeff Jorgensen; W Berkeley Kauffman; Grazia M Mancini; Jack Favor; Valerie Valant; Steven M Greenberg; Jonathan Rosand; Douglas B Gould
Journal:  Am J Hum Genet       Date:  2011-12-29       Impact factor: 11.025

3.  COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.

Authors:  Ilaria Longo; Paola Porcedda; Francesca Mari; Daniela Giachino; Ilaria Meloni; Carla Deplano; Alfredo Brusco; Maurizio Bosio; Laura Massella; Giancarlo Lavoratti; Dario Roccatello; Giovanni Frascá; Gianna Mazzucco; Andrea Onetti Muda; Maura Conti; Federica Fasciolo; Christelle Arrondel; Laurence Heidet; Alessandra Renieri; Mario De Marchi
Journal:  Kidney Int       Date:  2002-06       Impact factor: 10.612

4.  Mitochondrial variant G4132A is associated with familial non-arteritic anterior ischemic optic neuropathy in one large pedigree.

Authors:  John H Fingert; Michael A Grassi; Josesph C Janutka; Jade S East; James G Howard; Val C Sheffield; Dan M Jacobson; Sohan S Hayreh; Edwin M Stone
Journal:  Ophthalmic Genet       Date:  2007-03       Impact factor: 1.803

5.  Nonarteritic anterior ischemic optic neuropathy: associations with homozygosity for the C677T methylenetetrahydrofolate reductase mutation.

Authors:  Charles J Glueck; Ping Wang; Howard Bell; Venkat Rangaraj; Naila Goldenberg
Journal:  J Lab Clin Med       Date:  2004-03

6.  Demographic, Systemic, and Ocular Factors Associated with Nonarteritic Anterior Ischemic Optic Neuropathy.

Authors:  Dean M Cestari; Eric D Gaier; Peggy Bouzika; Taylor S Blachley; Lindsey B De Lott; Joseph F Rizzo; Janey L Wiggs; Jae H Kang; Louis R Pasquale; Joshua D Stein
Journal:  Ophthalmology       Date:  2016-09-19       Impact factor: 12.079

7.  Bilateral consecutive optic neuropathy in a patient with thrombophilia.

Authors:  Nurgül Ornek; Zafer Onaran; Kemal Ornek; Nesrin Büyüktortop
Journal:  BMJ Case Rep       Date:  2013-06-13

8.  Nonarteritic anterior ischemic optic neuropathy is associated with a specific platelet polymorphism located on the glycoprotein Ibalpha gene.

Authors:  Ophira Salomon; Nurit Rosenberg; David M Steinberg; Ruth Huna-Baron; Joseph Moisseiev; Rima Dardik; Oren Goldan; Shimon Kurtz; Aviya Ifrah; Uri Seligsohn
Journal:  Ophthalmology       Date:  2004-01       Impact factor: 12.079

9.  Common variation in COL4A1/COL4A2 is associated with sporadic cerebral small vessel disease.

Authors:  Kristiina Rannikmäe; Gail Davies; Pippa A Thomson; Steve Bevan; William J Devan; Guido J Falcone; Matthew Traylor; Christopher D Anderson; Thomas W K Battey; Farid Radmanesh; Ranjan Deka; Jessica G Woo; Lisa J Martin; Jordi Jimenez-Conde; Magdy Selim; Devin L Brown; Scott L Silliman; Chelsea S Kidwell; Joan Montaner; Carl D Langefeld; Agnieszka Slowik; Björn M Hansen; Arne G Lindgren; James F Meschia; Myriam Fornage; Joshua C Bis; Stéphanie Debette; Mohammad A Ikram; Will T Longstreth; Reinhold Schmidt; Cathy R Zhang; Qiong Yang; Pankaj Sharma; Steven J Kittner; Braxton D Mitchell; Elizabeth G Holliday; Christopher R Levi; John Attia; Peter M Rothwell; Deborah L Poole; Giorgio B Boncoraglio; Bruce M Psaty; Rainer Malik; Natalia Rost; Bradford B Worrall; Martin Dichgans; Tom Van Agtmael; Daniel Woo; Hugh S Markus; Sudha Seshadri; Jonathan Rosand; Cathie L M Sudlow
Journal:  Neurology       Date:  2015-02-04       Impact factor: 9.910

Review 10.  COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets.

Authors:  Debbie S Kuo; Cassandre Labelle-Dumais; Douglas B Gould
Journal:  Hum Mol Genet       Date:  2012-08-21       Impact factor: 6.150
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