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Published on: March 12, 2022
Normal retinal vasculature despite familial protein C deficiency
Carla Y Vossen1, Shelly Naud, Edwin G Bovill
1Department of Pathology, University of Vermont, 199 Main Street, Burlington, VT 05401, USA.
Insights
Protein C deficiency, a risk factor for nonocular venous thrombosis, was not associated with retinal venous occlusive disease in this family study. Further research is needed to confirm these findings.
Area of Science:
- Ophthalmology
- Hematology
Background:
- Protein C deficiency increases the risk of nonocular venous thrombosis.
- The association between protein C deficiency and retinal venous occlusive disease is not well-established.
Purpose of the Study:
- To investigate whether protein C deficiency is linked to retinal venous occlusive disease.
Main Methods:
- A cross-sectional study was conducted on members of a protein C-deficient family.
- Participants underwent ophthalmic examinations and provided medical and ophthalmic history.
Main Results:
- No family members, regardless of protein C deficiency status, showed signs of retinal vascular occlusive disease.
- This included individuals with a history of nonocular thrombosis.
Conclusions:
- The study found no evidence linking protein C deficiency to retinal vascular involvement.
- Protein C deficiency, despite increasing nonocular thrombosis risk, did not correlate with retinal venous occlusive disease in this cohort.
Purpose:
It is unclear whether protein C deficiency is associated with retinal venous occlusive disease.
Design:
We performed a cross-sectional study.
Methods:
Members of a protein C-deficient family, either deficient or nondeficient, with a history of nonocular venous thrombosis were included. All participants completed questionnaires regarding their medical and ophthalmic histories. Each subject underwent dilated direct ophthalmoscopic and binocular indirect ophthalmoscopic examinations by a single vitreoretinal specialist.
Results:
None of the 18 family members with a known history of nonocular thrombosis-12 with and 6 without protein C deficiency- manifested stigmas of recent or chronic retinal vascular occlusive disease.
Conclusions:
This study showed no evidence of involvement of the retinal vascular bed in a family with an increased risk of nonocular venous thrombosis attributable to the deficiency of protein C.
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