CALRETICULIN MUTATION ASSOCIATED WITH BILATERAL CENTRAL RETINAL VEIN OCCLUSION IN A YOUNG WOMAN

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.