| Title: |
CALRETICULIN MUTATION ASSOCIATED WITH BILATERAL CENTRAL RETINAL VEIN OCCLUSION IN A YOUNG WOMAN |
| Authors: |
Kabanovski, Anna; Donaldson, Laura; Koushan, Keyvan; Margolin, Edward |
| Source: |
RETINAL Cases & Brief Reports ; volume 17, issue 4, page 389-391 ; ISSN 1935-1089 |
| Publisher Information: |
Ovid Technologies (Wolters Kluwer Health) |
| Publication Year: |
2023 |
| Description: |
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. |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| DOI: |
10.1097/icb.0000000000001200 |
| DOI: |
10.1097/ICB.0000000000001200 |
| Availability: |
https://doi.org/10.1097/icb.0000000000001200; https://journals.lww.com/10.1097/ICB.0000000000001200 |
| Accession Number: |
edsbas.CA5FC163 |
| Database: |
BASE |