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Macular choroidal occlusion in dysplasminogenemia
1Department of Ophthalmology, School of Medicine, Tohoku University, Sendai, Japan.
Insights
Dysplasminogenemia, a condition reducing plasminogen function, can cause vision loss. This study identified a family with this disorder, linking it to macular choroidal occlusion and Graves disease.
Area of Science:
- Ophthalmology
- Hematology
- Genetics
Background:
- Dysplasminogenemia is a rare genetic disorder characterized by reduced functional activity of plasminogen, a key protein in the blood clotting cascade.
- The condition is diagnosed by a low ratio of functional plasminogen activity to its antigen level.
- Previous research suggests a potential link between dysplasminogenemia and thrombotic events.
Observation:
- A family presented with dysplasminogenemia, identified through functional and immunologic plasminogen level assessments.
- The proband, a 31-year-old woman with Graves disease, exhibited bilateral macular choroidal occlusive lesions.
- Family members, including parents and siblings, showed plasminogen levels approximately 50% below normal, indicating a familial pattern.
Findings:
- The proband was confirmed to be a homozygote for dysplasminogenemia.
- The study established a correlation between dysplasminogenemia and fundus abnormalities, specifically macular choroidal occlusion.
- A strong thrombotic tendency was observed in individuals with dysplasminogenemia.
Implications:
- Dysplasminogenemia may be an underlying cause of thrombotic events, including ocular vascular occlusions.
- This research highlights the importance of considering genetic factors like dysplasminogenemia in patients with unexplained thrombotic disorders and fundus abnormalities.
- Further investigation into the pathogenesis of macular choroidal occlusion in the context of dysplasminogenemia is warranted.
Abstract:
The authors describe a family with dysplasminogenemia. This diagnosis was based on a lowered ratio of functional plasminogen activity to immunologic plasminogen antigen level, associated with fundus abnormalities. The proband is a 31-year-old woman with Graves disease who had choroidal occlusive lesions of the macula in both eyes. The results of the laboratory examination indicated that the patient was a homozygote for dysplasminogenemia. Similar examinations of the patient's parents and siblings showed their plasminogen levels to be 50% below normal. The thrombotic tendency in this disorder appeared to be responsible for the pathogenesis of the macular choroidal occlusion.