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Calreticulin (CALR) mutation associated with bilateral central retinal vein occlusion in a young woman.

PURPOSE
To describe a novel association with calreticulin (CALR) mutation and retinal vein occlusion. Methods: Case report.


PATIENTS
We report a 24 year-old female with bilateral central retinal vein occlusion (CRVO).


RESULTS
Hypercoagulability work-up was positive for in-frame deletion in exon 9 of the calreticulin (CALR) gene.


DISCUSSION
Bilateral 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 woman who was found to have a mutation in the calreticulin (CALR) gene which was presumed to be the culprit.


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 CALR gene.