Novel homozygous mutation of plasminogen in ligneous conjunctivitis: a case report and literature review

Background:Ligneous conjunctivitis (LC) is a rare disease characterized by the development of wood-like pseudomembrane on tarsal conjunctiva secondary to type I plasminogen deficiency. Here we reported Chinese patient with LC in consanguineous family and performed literature review all mutations for this disease. Methods: A 13-month-old girl diagnosed her parents were included study. Hematoxylin eosin staining was used perform histopathology examination. The activity determined chromogenic assay. Sanger sequencing screen mutation site In silico analysis applied predict pathogenesis identified mutation. addition, reviewed literatures PLG LC. Results: Histopathology examination revealed infiltration inflammatory cells membranous lesions. Plasma severely decreased moderately (patient: activity, 2.50%; father: 41.02%; mother: 54.07%). Co-segregation indicated that homozygous c.763 G > (p.Glu255Lys) gene (PLG). Bioinformatics strongly suggested damaging model might cause abnormal spatial structure low stability, thus affecting functional activity. strong genetic heterogeneity Conclusions: exhibited heterogeneity, our study novel missense (c.763 A, p.Glu255Lys) one