Literature DB >> 25266838

Brittle cornea syndrome: a case report and comparison with Ehlers Danlos syndrome.

Muralidhar Ramappa1, M Edward Wilson2, R Curtis Rogers3, Rupal H Trivedi4.   

Abstract

We report a 6-week-old white boy of nonconsanguineous parents who presented with bluish scleral discoloration, thin corneas, and progressive high myopia. A diagnosis of brittle cornea syndrome was confirmed by molecular analysis and prompt measures were taken to manage the condition. Long-term follow-up of children diagnosed with brittle cornea syndrome is important to minimize the risks of corneal rupture and for detecting late-onset systemic conditions.
Copyright © 2014 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

Entities:  

Mesh:

Substances:

Year:  2014        PMID: 25266838     DOI: 10.1016/j.jaapos.2014.06.013

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


  7 in total

1.  [The cornea as an indicator for systemic diseases].

Authors:  J M Rohrbach; W Lisch; B Seitz
Journal:  Ophthalmologe       Date:  2018-11       Impact factor: 1.059

2.  Brittle cornea syndrome: A tale of three brothers.

Authors:  Kunal Mandlik; Rakesh A Betdur; R Rashmita; Shivananda Narayana
Journal:  Indian J Ophthalmol       Date:  2022-07       Impact factor: 2.969

Review 3.  Hypermobile Ehlers-Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes.

Authors:  Cortney Gensemer; Randall Burks; Steven Kautz; Daniel P Judge; Mark Lavallee; Russell A Norris
Journal:  Dev Dyn       Date:  2020-08-17       Impact factor: 3.780

4.  Brittle Cornea Syndrome: Case Report with Novel Mutation in the PRDM5 Gene and Review of the Literature.

Authors:  Georgia Avgitidou; Sebastian Siebelmann; Bjoern Bachmann; Juergen Kohlhase; Ludwig M Heindl; Claus Cursiefen
Journal:  Case Rep Ophthalmol Med       Date:  2015-06-29

Review 5.  Brittle cornea syndrome: a case report and review of the literature.

Authors:  Qi Wan; Jing Tang; Yu Han; Qibin Xiao; Yingping Deng
Journal:  BMC Ophthalmol       Date:  2018-09-18       Impact factor: 2.209

6.  Brittle cornea syndrome: current perspectives.

Authors:  Andrew Walkden; Emma Burkitt-Wright; Leon Au
Journal:  Clin Ophthalmol       Date:  2019-08-12

7.  A mouse model of brittle cornea syndrome caused by mutation in Zfp469.

Authors:  Chloe M Stanton; Amy S Findlay; Camilla Drake; Mohammad Z Mustafa; Philippe Gautier; Lisa McKie; Ian J Jackson; Veronique Vitart
Journal:  Dis Model Mech       Date:  2021-09-22       Impact factor: 5.758

  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.