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Thromb Haemost 2001; 85(06): 1004-1010
DOI: 10.1055/s-0037-1615955
Review Article
Schattauer GmbH

Homozygous and Compound-heterozygous Type I Plasminogen Deficiency Is a Common Cause of Ligneous Conjunctivitis

Volker Schuster
1   Children’s Hospital, University of Leipzig, Germany
,
Petra Zeitler
2   Children’s Hospital, Stockholm, Sweden
,
Stefan Seregard
3   St. Erik’s Eye Hospital, Stockholm, Sweden
,
Ugur Ozcelik
4   Dept. of Pediatrics, Chest disease Unit and Hacettepe University Faculty of Medicine, Ankara, Turkey
,
Deniz Anadol
4   Dept. of Pediatrics, Chest disease Unit and Hacettepe University Faculty of Medicine, Ankara, Turkey
,
Lori Luchtman-Jones
5   St. Louis Children’s Hospital, Washington University School of Medicine, St. Louis, Missouri, USA
,
Francoise Meire
6   Dept. of Ophthalmology, Gent University Hospital, Belgium
,
Anne-Marie Mingers
2   Children’s Hospital, Stockholm, Sweden
,
Christian Schambeck
7   Central Laboratory, University of Würzburg, Würzburg, Germany
,
Hans Wolfgang Kreth
2   Children’s Hospital, Stockholm, Sweden
› Author Affiliations
Further Information

Publication History

Received 25 October 2000

Accepted after revision 19 January 2001

Publication Date:
12 December 2017 (online)

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Summary

Severe type I plasminogen deficiency has been recently linked to ligneous conjunctivitis, a rare and uncommon form of chronic conjunctivitis. In this study, eight unrelated ligneous conjunctivitis patients living in different parts of the world were examined. All affected subjects from which plasma was available displayed absent or markedly reduced plasminogen antigen and plasminogen functional activity. Molecular genetic studies of seven patients identified a Lys19 → Glu mutation in two boys in a homozygous state, and in two girls in a compound-heterozygous state in which the second plasminogen gene carried a missense (Arg134 → Lys) and a nonsense mutation (Cys133 → Stop), respectively. A fifth patient was shown to be homozygous for a frameshift mutation in plasminogen exon 14 (Gly565ins-G). In two unrelated subjects with ligneous conjunctivitis no mutations in the plasminogen gene were identified. Our results suggest that the Lys19 → Glu mutation is the most prevalent mutation in the plasminogen gene of patients with ligneous conjunctivitis.

Key words

Ligneous conjunctivitis - plasminogen deficiency - plasminogen gene mutations
 

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