Factor VII deficiency in a patient with retinal arteriolar tortuosity syndrome

Purpose 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 present ed at age 16 years and had mild retinal arteriolar tortuosity. Coagulation studies in the son revealed normal activated partial thromboplastin time (A PTT), prolonged prothrombin time (FT) and 30% activity of factor VII. Conclusions Factor VII deficiency may aggravate the haemorrhages in retinal arteriolar tortuosity syndrome. We therefore suggest conducting routine co agulation studies (PT, APTT) in all patients with retinal arteriolar tortuo sity syndrome. Determination of factor VII activity is warranted only in pa tients with normal APTT and prolonged PT.