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Updated: Oct 16, 2025
Optimization of the Retinal Vein Occlusion Mouse Model to Limit Variability
Published on: August 6, 2021
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.
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.
