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Peer-reviewedCC BY 4.0International Journal of Molecular Sciences

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

  • Sayeed Khan1
  • Ashtyn Vogt2
  • Osman Khan3
  • Jeremy Tan2
  • Sanober Nusrat4
4 affiliations
  1. 1Department of Ophthalmology, Albany Medical College, Albany, NY 12208, USA
  2. 2Department of Ophthalmology, Dean McGee Eye Institute, Oklahoma City, OK 73104, USA
  3. 3The Jimmy Everest Section of Pediatric Hematology-Oncology, Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA
  4. 4Hematology-Oncology Section, Department of Internal Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA
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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.

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Cite

BibTeXRIS
BibTeX
@article{khan2026natural,
  title = {{Natural History and Therapeutic Response in Ophthalmic Plasminogen Deficiency: Two Cases and Call for Registry-Based Data}},
  author = {Sayeed Khan and Ashtyn Vogt and Osman Khan and Jeremy Tan and Sanober Nusrat},
  journal = {International Journal of Molecular Sciences},
  year = {2026},
  month = oct,
  doi = {10.3390/ijms27209373},
  url = {https://www.mdpi.com/1422-0067/27/20/9373},
  note = {CC BY 4.0},
}
RIS
TY  - JOUR
TI  - Natural History and Therapeutic Response in Ophthalmic Plasminogen Deficiency: Two Cases and Call for Registry-Based Data
AU  - Sayeed Khan
AU  - Ashtyn Vogt
AU  - Osman Khan
AU  - Jeremy Tan
AU  - Sanober Nusrat
PY  - 2026
DA  - 2026/10/01
JO  - International Journal of Molecular Sciences
DO  - 10.3390/ijms27209373
UR  - https://www.mdpi.com/1422-0067/27/20/9373
AB  - 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.
SN  - 1422-0067
ER  -