Literature DB >> 19199342

Dyskeratosis congenita with corneal limbal insufficiency.

Deniz Aslan1, Sengul Ozdek, Orhun Camurdan, Aysun Bideci, Peyami Cinaz.   

Abstract

We describe a newly diagnosed Turkish adolescent female with Dyskeratosis congenita along with the novel ocular finding of corneal limbal insufficiency. Corneal limbal insufficiency was suggested to be a premature aging sign resulting from a deficiency in corneal stem cell activity, a biological process caused by underlying telomeric defect in this disease. Copyright 2009 Wiley-Liss, Inc.

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Year:  2009        PMID： 19199342     DOI： 10.1002/pbc.21960

Source DB:  PubMed          Journal:  Pediatr Blood Cancer        ISSN： 1545-5009            Impact factor:   3.167


  6 in total

1.  Limbal stem cell deficiency in patients with inherited stem cell disorder of dyskeratosis congenita.

Authors:  Deniz Aslan; Rustu F Akata; Harriet Holme; Tom Vulliamy; Inderjeet Dokal
Journal:  Int Ophthalmol       Date:  2012-07-20       Impact factor: 2.031

2.  Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenita.

Authors:  Ekaterini T Tsilou; Neelam Giri; Sarah Weinstein; Christine Mueller; Sharon A Savage; Blanche P Alter
Journal:  Ophthalmology       Date:  2009-12-22       Impact factor: 12.079

3.  Global Consensus on Definition, Classification, Diagnosis, and Staging of Limbal Stem Cell Deficiency.

Authors:  Sophie X Deng; Vincent Borderie; Clara C Chan; Reza Dana; Francisco C Figueiredo; José A P Gomes; Graziella Pellegrini; Shigeto Shimmura; Friedrich E Kruse
Journal:  Cornea       Date:  2019-03       Impact factor: 2.651

4.  Telomerase reverse transcriptase-dependent telomere equilibration mitigates tissue dysfunction in mTert heterozygotes.

Authors:  Marie Meznikova; Natalie Erdmann; Rich Allsopp; Lea A Harrington
Journal:  Dis Model Mech       Date:  2009-10-19       Impact factor: 5.758

Review 5.  Ocular involvement in primary immunodeficiency diseases.

Authors:  Sima Hosseinverdi; Hassan Hashemi; Asghar Aghamohammadi; Hans D Ochs; Nima Rezaei
Journal:  J Clin Immunol       Date:  2013-11-30       Impact factor: 8.542

6.  Zinsser-Engman-Cole Syndrome Presenting as Partial Limbal Stem Cell Deficiency.

Authors:  Arjun Srirampur; Tarannum Mansoori; Pravalika Rebbala
Journal:  Cureus       Date:  2020-10-13
  6 in total

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