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.