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Blood, Vol. 93 No. 10 (May 15), 1999:
pp. 3457-3466
Compound-Heterozygous Mutations in the Plasminogen Gene Predispose
to the Development of Ligneous Conjunctivitis
Volker Schuster,
Silvia Seidenspinner,
Petra Zeitler,
Cornelia Escher,
Uwe Pleyer,
Wolfgang Bernauer,
E. Richard Stiehm,
Sherwin Isenberg,
Stefan Seregard,
Thomas Olsson,
Anne-Marie Mingers,
Christian Schambeck, and
Hans Wolfgang Kreth
From the Children's Hospital and the Central Laboratory, University
of Würzburg, Würzburg, Germany; the Department of
Ophthalmology, Charité, Humboldt University, Berlin, Germany; the
Department of Ophthalmology, University of Zürich, Zürich,
Switzerland; the Jules Stein Eye Institute, Departments of
Ophthalmology and Pediatrics, UCLA School of Medicine, Los Angeles, CA;
the St Erik's Eye Hospital, Stockholm, Sweden; and the Department of
Ophthalmology, Visby Hospital, Visby, Sweden.
Homozygous type I plasminogen deficiency has been identified as a
cause of ligneous conjunctivitis. In this study, 5 additional patients
with ligneous conjunctivitis are examined. Three unrelated patients (1 boy, 1 elderly woman, and 1 man) had plasminogen antigen levels of less
than 0.4, less than 0.4, and 2.4 mg/dL, respectively, but had
plasminogen functional residual activity of 17%, 18%, and 17%,
respectively. These subjects were compound-heterozygotes for different
missense mutations in the plasminogen gene: Lys19  Glu/Arg513
His, Lys19 Glu/Arg216 His, and
Lys19 Glu/Leu128 Pro,
respectively. The other 2 patients, a 14-year-old boy and his
19-year-old sister, who both presented with a severe course of the
disease, exhibited plasminogen antigen and functional activity levels
below the detection limit (<0.4 mg/dL and <5%, respectively). These subjects were compound-heterozygotes for a deletion mutation (del
Lys212) and a splice site mutation in intron Q (Ex17 + 1del-g) in the plasminogen gene. These findings show that certain
compound-heterozygous mutations in the plasminogen gene may be
associated with ligneous conjunctivitis. Our findings also suggest that
the severity of clinical symptoms of ligneous conjunctivitis and its
associated complications may depend on the amount of plasminogen
functional residual activity.
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