Retinal vascular occlusion and deficiencies in the protein C pathway.
OBJECTIVE
To report abnormalities in the protein C pathway and other vascular occlusion risk factors in patients with retinal vascular occlusion.


METHODS
In a study, we investigated 76 consecutive patients who had in-patient evaluation of venous or arterial retinal vascular occlusion. All patients underwent comprehensive tests for coagulation disorders including determinations of protein C, protein S, lupus anticoagulants, and resistance to activated protein C and were screened for vascular disease risk factors. Resistance to activated protein C was confirmed by a polymerase chain reaction method to detect the specific factor V R506Q mutation. For comparative purposes, we also screened 209 consecutive inpatients with deep vein thrombosis from the same geographic region for resistance to activated protein C as well as protein C and protein S deficiencies.


RESULTS
Ten (29%) of 35 patients with central retinal vein occlusion (CRVO) had factor V R506Q mutation. The factor V R506Q mutation was detected in four (19%) of 21 patients with branch retinal vein occlusion. The higher frequency in factor V R506Q mutation compared with the expected 9% mutation prevalence in a white population was highly significant for the central retinal vein occlusion group but not for the branch retinal vein occlusion group. In all patients with resistance to activated protein C, the factor V R506Q mutation was detected; 16 were heterozygous, one homozygous. No cases of lupus anticoagulants, protein C, or protein S deficiencies were detected. Forty (19%) of 209 patients with deep vein thrombosis were carriers of the factor V R506Q mutation.


CONCLUSIONS
The prevalence of the factor V R506Q mutation is similar in patients with central retinal vein occlusion and patients with deep vein thrombosis and represents a relevant risk factor. Screening for this mutation is therefore recommended in all patients with central retinal vein occlusion.
Greiner
K
K
Department of Ophthalmology, Johannes Gutenberg-University Mainz, Germany. kg@bmp.de
Hafner
G
G
Dick
B
B
Peetz
D
D
Prellwitz
W
W
Pfeiffer
N
N
D020016:Activated Protein C Resistance / Q000235:genetics*; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005165:Factor V / Q000235:genetics*; D005260:Female; D006801:Humans; D016682:Lupus Coagulation Inhibitor / Q000032:analysis; D008297:Male; D008875:Middle Aged; D009154:Mutation; D015995:Prevalence; D011446:Prospective Studies; D011486:Protein C / Q000032:analysis; D020151:Protein C Deficiency / Q000235:genetics*; D017293:Protein S / Q000032:analysis; D015356:Retinal Artery Occlusion / Q000235:genetics*; D012170:Retinal Vein Occlusion / Q000235:genetics*; D012307:Risk Factors
D016682:Lupus Coagulation Inhibitor; D011486:Protein C; D017293:Protein S; D005165:Factor V