Work

Natural History and Therapeutic Response in Ophthalmic Plasminogen Deficiency: Two Cases and Call for Registry-Based Data

Year: 2026

Type: article

Abstract: Plasminogen deficiency is an ultra-rare disorder of fibrinolysis that most commonly presents as ligneous conjunctivitis. Ophthalmic manifestations often precede systemic diagnosis, making ophthalmologists essential to early detection and management. We report two contrasting cases illustrating the spectrum of disease and therapeutic response. A 65-year-old woman with untreated type 1 plasminogen deficiency developed recurrent ligneous conjunctivitis leading to enucleation and multisystem morbidity, while a 4-year-old girl with autosomal dominant type 1 disease achieved sustained remission following systemic plasminogen replacement therapy (Ryplazim). These cases highlight the evolution of management from supportive care to disease-modifying therapy and the critical importance of early recognition. Long-term outcomes and treatment durability remain poorly defined, underscoring the need for registry-based collaboration to better characterize disease progression, therapeutic response, and quality-of-life impact in plasminogen deficiency.

Source: International Journal of Molecular Sciences

DOI: 10.3390/ijms27209373

Authors: Sayeed Khan, Ashtyn Vogt, Osman Khan, Jeremy Tan, Sanober Nusrat

Institutions: Albany Medical College, Dean McGee Eye Institute, University of Oklahoma Health Sciences Center

Language: English

Topic: Blood Coagulation and Thrombosis Mechanisms

Subfield: Hematology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,499