TY - JOUR
T1 - Retinal arterial occlusion in a child with factor V Leiden and thermolabile methylene tetrahydrofolate reductase mutations
AU - Talmon, T.
AU - Scharf, J.
AU - Mayer, E.
AU - Lanir, N.
AU - Miller, B.
AU - Brenner, B.
PY - 1997
Y1 - 1997
N2 - PURPOSE: 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. CONCLUSION: Coexistence of two mild hereditary thrombophilic states may result in severe thrombotic manifestations in young people.
AB - PURPOSE: 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. CONCLUSION: Coexistence of two mild hereditary thrombophilic states may result in severe thrombotic manifestations in young people.
UR - http://www.scopus.com/inward/record.url?scp=0030830735&partnerID=8YFLogxK
U2 - 10.1016/S0002-9394(14)70910-9
DO - 10.1016/S0002-9394(14)70910-9
M3 - Article
C2 - 9372726
AN - SCOPUS:0030830735
SN - 0002-9394
VL - 124
SP - 689
EP - 691
JO - American Journal of Ophthalmology
JF - American Journal of Ophthalmology
IS - 5
ER -