Retinal arterial occlusion in a child with factor V Leiden and thermolabile methylene tetrahydrofolate reductase mutations.
OBJECTIVE
To analyze the potential cause of retinal arterial occlusion in a 9-year-old child.


METHODS
Case report. Antithrombin III, protein C, free protein S, activated protein C resistance, and antiphospholipid antibodies in plasma were determined. Determination of factor V R506Q (Leiden mutation), thermolabile methylene tetrahydrofolate reductase by polymerase chain reaction, and restriction enzyme analysis were performed.


RESULTS
The patient was found to be heterozygous for factor V R506Q (Leiden mutation) and homozygous for thermolabile methylene tetrahydrofolate reductase.


CONCLUSIONS
Coexistence of two mild hereditary thrombophilic states may result in severe thrombotic manifestations in young people.
Talmon
T
T
Department of Ophthalmology, Rambam Medical Center, Haifa, Israel.
Scharf
J
J
Mayer
E
E
Lanir
N
N
Miller
B
B
Brenner
B
B
D002648:Child; D004789:Enzyme Activation; D005165:Factor V / Q000235:genetics*; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D006579:Heterozygote; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011486:Protein C / Q000378:metabolism; D015356:Retinal Artery Occlusion / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D014786:Vision Disorders / Q000201:enzymology / Q000235:genetics / Q000473:pathology
D011486:Protein C; C095381:factor V Leiden; D005165:Factor V; D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)