Literature DB >> 18455938

Retinal hemorrhages in a patient with dyskeratosis congenita.

Sayeda Nazir1, Namrata Sayani, Paul H Phillips.   

Abstract

Dyskeratosis congenita, also referred to as Zinsser-Cole-Engman syndrome, is characterized by reticular skin pigmentation, dystrophic nail changes, and mucosal leukoplakia. Other findings include carious teeth, premature graying of hair, and osteoporosis. Approximately 50% of patients develop pancytopenia. Ophthalmologic manifestations include blepharitis, conjunctivitis, obliteration of the lacrimal puncta, nasolacrimal duct obstruction, ectropion, and loss of eyelashes. We report bilateral retinal hemorrhages from pancytopenia in a patient with dyskeratosis congenita.

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Year:  2008        PMID: 18455938     DOI: 10.1016/j.jaapos.2008.01.016

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


  5 in total

1.  Vitreous hemorrhage secondary to retinal vasculopathy in a patient with dyskeratosis congenita.

Authors:  Alessandro Finzi; Mariachiara Morara; Francesco Pichi; Chiara Veronese; Antonio P Ciardella
Journal:  Int Ophthalmol       Date:  2013-10-10       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.  A Case of Presumed Dyskeratosis Congenita Causing Severe Retinal Vascular Occlusion.

Authors:  Takahisa Hirokawa; Shou Oosuka; Masahiro Tonari; Hiroshi Mizuno; Teruyo Kida; Akiko Inoue; Akira Ashida; Tsunehiko Ikeda
Journal:  Case Rep Ophthalmol       Date:  2021-05-07

Review 4.  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

Review 5.  Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability.

Authors:  Moisés Ó Fiesco-Roa; Benilde García-de Teresa; Paula Leal-Anaya; Renée van 't Hek; Talia Wegman-Ostrosky; Sara Frías; Alfredo Rodríguez
Journal:  Front Oncol       Date:  2022-08-25       Impact factor: 5.738

  5 in total

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