Retinal vacular occluion and deficiencie in the protein C pathway Original Reearch Article

PURPOE: To report abnormalitie in the protein C pathway and other vacular occluion rik factor in patient with retinal vacular occluion. METHOD: In a tudy, we invetigated 76 conecutive patient who had in-patient evaluation of venou or arterial retinal vacular occluion. All patient underwent comprehenive tet for coagulation diorder including determination of protein C, protein , lupu anticoagulant, and reitance to activated protein C and were creened for vacular dieae rik factor. Reitance to activated protein C wa confirmed by a polymerae chain reaction method to detect the pecific factor V R506Q mutation. For comparative purpoe, we alo creened 209 conecutive inpatient with deep vein thromboi from the ame geographic region for reitance to activated protein C a well a protein C and protein deficiencie. REULT: Ten (29%) of 35 patient with central retinal vein occluion (CRVO) had factor V R506Q mutation. The factor V R506Q mutation wa detected in four (19%) of 21 patient with branch retinal vein occluion. The higher frequency in factor V R506Q mutation compared with the expected 9% mutation prevalence in a white population wa highly ignificant for the central retinal vein occluion group but not for the branch retinal vein occluion group. In all patient with reitance to activated protein C, the factor V R506Q mutation wa detected; 16 were heterozygou, one homozygou. No cae of lupu anticoagulant, protein C, or protein deficiencie were detected. Forty (19%) of 209 patient with deep vein thromboi were carrier of the factor V R506Q mutation. CONCLUION: The prevalence of the factor V R506Q mutation i imilar in patient with central retinal vein occluion and patient with deep vein thromboi and repreent a relevant rik factor. creening for thi mutation i therefore recommended in all patient with central retinal vein occluion.