Factor VII deficiency in a patient with retinal arteriolar tortuosity syndrome.
OBJECTIVE
To report a pedigree with hereditary retinal arteriolar tortuosity with macular haemorrhage and abnormality of the coagulation system.


METHODS
Case report and literature review.


RESULTS
A 49-year-old woman was referred due to macular haemorrhage in both eyes. Her 16-year-old son had recurrent retinal haemorrhages which presented at age 16 years and had mild retinal arteriolar tortuosity. Coagulation studies in the son revealed normal activated partial thromboplastin time (APTT), prolonged prothrombin time (PT) and 30% activity of factor VII.


CONCLUSIONS
Factor VII deficiency may aggravate the haemorrhages in retinal arteriolar tortuosity syndrome. We therefore suggest conducting routine coagulation studies (PT, APTT) in all patients with retinal arteriolar tortuosity syndrome. Determination of factor VII activity is warranted only in patients with normal APTT and prolonged PT.
Zadok
D
D
Department of Ophthalmology, Assaf Harofeh Medical Center, Zerifin, Israel.
Levi
Y
Y
Zehavi
H
H
Rahimi-Levene
N
N
Nemet
P
P
Kornberg
A
A
D000293:Adolescent; D001160:Arterioles / Q000002:abnormalities; D005168:Factor VII Deficiency / Q000235:genetics*; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012161:Retinal Artery / Q000002:abnormalities*; D012166:Retinal Hemorrhage / Q000235:genetics*; D013577:Syndrome