[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.
Abstract

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