Literature DB >> 30092264

Ocular and systemic manifestations of beta-propeller protein-associated neurodegeneration.

Laura M Tiedemann1, Dallas Reed2, Anthony Joseph3, Sylvia H Yoo4.   

Abstract

Beta-propeller protein-associated neurodegeneration (BPAN) is a rare genetic disorder characterized by neurodegeneration with brain iron accumulation (NBIA). We report an infant diagnosed with BPAN who was found to have high myopia and astigmatism, strabismus, and bilateral retinal pigmentary changes. While retinal pigmentary changes have been described in other disorders of NBIA, it has been only rarely reported in BPAN.
Copyright © 2018 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

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Year:  2018        PMID： 30092264     DOI： 10.1016/j.jaapos.2018.03.013

Source DB:  PubMed          Journal:  J AAPOS        ISSN： 1091-8531            Impact factor:   1.220


  2 in total

Review 1.  WDR45, one gene associated with multiple neurodevelopmental disorders.

Authors:  Yingying Cong; Vincent So; Marina A J Tijssen; Dineke S Verbeek; Fulvio Reggiori; Mario Mauthe
Journal:  Autophagy       Date:  2021-04-12       Impact factor: 16.016

2.  A comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouse.

Authors:  Caroline A Biagosch; Silvia Vidali; Holger Prokisch; Arcangela Iuso; Michael Faerberboeck; Svenja-Viola Hensler; Lore Becker; Oana V Amarie; Antonio Aguilar-Pimentel; Lillian Garrett; Tanja Klein-Rodewald; Birgit Rathkolb; Enrica Zanuttigh; Julia Calzada-Wack; Patricia da Silva-Buttkus; Jan Rozman; Irina Treise; Helmut Fuchs; Valerie Gailus-Durner; Martin Hrabě de Angelis; Dirk Janik; Wolfgang Wurst; Johannes A Mayr; Thomas Klopstock; Thomas Meitinger
Journal:  Mamm Genome       Date:  2021-05-27       Impact factor: 2.957
  2 in total

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