Diagnostically challenging ligneous conjunctivitis with confirmed PLG variants: clinical and genetic insights.

INTRODUCTION

This study reports the ocular and systemic manifestations, genetic findings, and management approaches in 10 patients diagnosed with ligneous conjunctivitis (LC) and followed at a university hospital.

METHODS

In this retrospective case series, medical records were retrospectively reviewed to collect demographic characteristics, age at diagnosis, family history, serum plasminogen (PLG) activity levels, ocular/systemic findings, and treatment modalities.

RESULTS

Ten patients (7 females, 3 males; age range: 2-40 years) were followed for a mean duration of 9.4 ± 5.5 years. PLG activity was markedly reduced (18-25%) in six individuals. Systemic comorbidities included hydrocephalus (n = 3), gingivitis (n = 3), cervicitis/vaginitis (n = 4), menstrual irregularities (n = 2), infertility (n = 2), dacryocystitis (n = 2), epilepsy (n = 1), growth retardation (n = 1), deafness (n = 1), and brain tumor (n = 1). Whole-exome sequencing identified four distinct PLG variants, including homozygous pathogenic variants in five patients and a heterozygous variant in one. Treatment strategies involved pseudomembrane excision, topical heparin, corticosteroids, cyclosporine, and fresh frozen plasma (FFP). Systemic FFP was administered in selected cases. Additional procedures included amniotic membrane transplantation (n = 4) and cataract surgery (n = 3).

CONCLUSION

The diagnosis of LC is based on the integration of clinical and genetic findings, characterized by recurrent, firm pseudomembranes on the tarsal conjunctiva and often supported by a positive family history or parental consanguinity. Reduced PLG activity, histopathological confirmation of fibrin-rich membranes, and supportive genetic findings further substantiate the diagnosis.