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CALRETICULIN MUTATION ASSOCIATED WITH BILATERAL CENTRAL RETINAL VEIN OCCLUSION IN A YOUNG WOMAN
Anna Kabanovski1, Laura Donaldson2, Keyvan Koushan2
1Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.
Insights
Bilateral central retinal vein occlusion (CRVO) is rare, often linked to systemic conditions. A young patient with bilateral CRVO was found to have a calreticulin gene mutation, suggesting a genetic link.
Area of Science:
- Ophthalmology
- Genetics
- Hematology
Background:
- Bilateral central retinal vein occlusion (CRVO) is a rare condition.
- CRVO is typically associated with systemic illnesses like hypercoagulable states or inflammatory diseases.
Observation:
- A case report details a 24-year-old woman presenting with bilateral CRVO.
- The patient's hypercoagulability work-up revealed an in-frame deletion in exon 9 of the calreticulin gene.
Findings:
- The calreticulin gene mutation was identified as the likely cause of bilateral CRVO in this young patient.
- This case highlights a potential genetic etiology for CRVO, particularly in younger individuals.
Implications:
- Genetic testing for prothrombotic mutations, including calreticulin, is recommended for young patients with CRVO.
- Screening for calreticulin gene mutations may aid in diagnosing and managing bilateral CRVO, especially in the absence of other systemic causes.
Background:
Bilateral central retinal vein occlusion (CRVO) is rare and is usually associated with an underlying systemic illness such as hypercoagulable state or systemic inflammatory disease. We present a case of bilateral CRVO in a young patent who was found to have a mutation in the calreticulin gene, which was presumed to be the culprit.
Methods:
Case report.
Results:
We report a 24-year-old woman with bilateral CRVO. Hypercoagulability work-up was positive for in-frame deletion in exon 9 of the calreticulin gene.
Conclusion:
We suggest that all young patients presenting with CRVO or any patient with bilateral CRVO have genetic testing for a limited set of known, prothrombotic mutations including the recently identified calreticulin gene.
