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Published on: August 6, 2021
[Bilateral simultaneous central retinal vein occlusion in protein S deficiency]
G Tóth1, G L Sándor2, C Reichel3
1Augenklinik, Semmelweis Universität, Mária u. 39, 1085, Budapest, Ungarn. gabortothgabor@gmail.com.
Insights
Young patients experiencing sudden vision loss in both eyes may have protein S deficiency, a clotting disorder. Prompt thrombophilia screening and medical history review are crucial for diagnosis and management.
Area of Science:
- Ophthalmology
- Hematology
- Genetics
Background:
- Retinal vein occlusion (RVO) can occur in young individuals.
- A family history of premature thrombotic events warrants further investigation.
- Protein S deficiency is an inherited thrombophilia linked to increased clotting risk.
Observation:
- A 27-year-old male presented with acute bilateral central retinal vein occlusion (CRVO).
- His father died at age 33 from a pulmonary embolism.
- Genetic screening identified protein S deficiency in the patient.
Findings:
- This case highlights a strong association between young-onset CRVO and protein S deficiency.
- Sudden, bilateral vision decrease in a young patient is a red flag for underlying thrombophilia.
- Protein S deficiency can manifest as severe ocular events like CRVO.
Implications:
- Clinicians should consider thrombophilia screening, including protein S deficiency testing, in young patients with RVO.
- A detailed family history is essential for identifying potential genetic predispositions to clotting disorders.
- Early diagnosis of protein S deficiency can guide preventative strategies against future thrombotic events.
Case Report:
This article reports a case of bilateral simultaneous central retinal vein occlusion (CRVO) and protein S deficiency. The 27-year-old male patient presented with a sudden decrease in vision in both eyes. The patient's medical history documented the death of his father at the age of 33 years due to pulmonary embolism. Thrombophilia screening revealed protein S deficiency.
Objectives:
We report this case to emphasize that in any case of young onset retinal vein occlusion, protein S deficiency should be suspected.
Conclusions:
Thrombophilia assays and taking a thorough medical history should be performed.
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