Literature DB >> 17621530

Ocular manifestations of Donnai-Barrow syndrome.

Nehal Patel1, Thomas Hejkal, Allen Katz, Eyal Margalit.   

Abstract

Donnai-Barrow syndrome is a rare autosomal recessive disorder first described in 1993. This report presents ocular manifestations of this rare autosomal recessive disorder through 2 additional cases. Ocular features include hypertelorism, down-slanting palpebral fissures, iris coloboma, high myopia, and retinal detachment. The extreme congenital myopia in these patients is a significant risk factor for retinal detachment, and prophylactic barrier photocoagulation may be considered to prevent retinal detachment and its associated functional disability.

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Year:  2007        PMID: 17621530     DOI: 10.1177/0883073807301933

Source DB:  PubMed          Journal:  J Child Neurol        ISSN: 0883-0738            Impact factor:   1.987


  7 in total

1.  Megalin-deficiency causes high myopia, retinal pigment epithelium-macromelanosomes and abnormal development of the ciliary body in mice.

Authors:  Tina Storm; Steffen Heegaard; Erik I Christensen; Rikke Nielsen
Journal:  Cell Tissue Res       Date:  2014-07-01       Impact factor: 5.249

Review 2.  A review of Donnai-Barrow and facio-oculo-acoustico-renal (DB/FOAR) syndrome: clinical features and differential diagnosis.

Authors:  Barbara R Pober; Mauro Longoni; Kristin M Noonan
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2009-01

3.  Mutations in zebrafish lrp2 result in adult-onset ocular pathogenesis that models myopia and other risk factors for glaucoma.

Authors:  Kerry N Veth; Jason R Willer; Ross F Collery; Matthew P Gray; Gregory B Willer; Daniel S Wagner; Mary C Mullins; Ava J Udvadia; Richard S Smith; Simon W M John; Ronald G Gregg; Brian A Link
Journal:  PLoS Genet       Date:  2011-02-17       Impact factor: 5.917

4.  Foxg1-Cre Mediated Lrp2 Inactivation in the Developing Mouse Neural Retina, Ciliary and Retinal Pigment Epithelia Models Congenital High Myopia.

Authors:  Olivier Cases; Antoine Joseph; Antoine Obry; Mathieu D Santin; Sirine Ben-Yacoub; Michel Pâques; Sabine Amsellem-Levera; Ana Bribian; Manuel Simonutti; Sébastien Augustin; Thomas Debeir; José Alain Sahel; Annabel Christ; Fernando de Castro; Stéphane Lehéricy; Pascal Cosette; Renata Kozyraki
Journal:  PLoS One       Date:  2015-06-24       Impact factor: 3.240

5.  Performance of Children With Donnai-Barrow Syndrome After Cochlear Implantation: A Case Report.

Authors:  Mohammed Yousef Alyousef; Alanoud A Abuhaimed; Dania M Alkelabi; Maram AlKahtani; Einas M Yousef; Medhat F Yousef
Journal:  Cureus       Date:  2022-01-09

6.  Selective Ablation of Megalin in the Retinal Pigment Epithelium Results in Megaophthalmos, Macromelanosome Formation and Severe Retina Degeneration.

Authors:  Tina Storm; Thomas Burgoyne; Joshua L Dunaief; Erik I Christensen; Clare Futter; Rikke Nielsen
Journal:  Invest Ophthalmol Vis Sci       Date:  2019-01-02       Impact factor: 4.799

7.  Generation of a homozygous LRP2 knockout human embryonic stem cell line (FDCHDPe010-A-56) by CRISPR/Cas9 system.

Authors:  Jie You; Yun Cheng; Xian-Jie Yang; Ling Chen
Journal:  Stem Cell Res       Date:  2021-04-08       Impact factor: 1.587

  7 in total

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