Retinal vein occlusion associated with antithrombin deficiency secondary to a novel G9840C missense mutation.
OBJECTIVE
To describe a novel missense mutation in the antithrombin gene associated with antithrombin deficiency type I in a 40-year-old man with retinal vein occlusion.


METHODS
Investigational case report.


RESULTS
Ophthalmoscopy of the right eye showed hemicentral retinal vein occlusion. The patient's medical history was negative for glaucoma or cardiovascular risk factors. Screening for thrombophilic disorders revealed antithrombin deficiency type I. Based on a genetic analysis, a novel missense mutation of a transition of guanosine to cytosine at nucleotide position 9840 was detected, predicting the replacement of aspartic acid by histidine encoded by codon 366 (D366H) in exon 5.


CONCLUSIONS
Selective screening may be helpful in identifying patients with retinal vein occlusion with thrombophilic defects. When ordering laboratory tests in patients with retinal vein occlusion, antithrombin deficiency type I should be considered in the differential diagnosis.


CONCLUSIONS
Our results contribute to a better understanding of the molecular bases of antithrombin deficiency, adding a novel entry for the molecular defects causing antithrombin deficiency type I. Moreover, the identification of this thrombophilic disorder in retinal vein occlusion may be relevant to the issue of the initiation and duration of oral anticoagulant therapy.
Kuhli
Claudia
C
Klinik für Augenheilkunde and Medizinische Klinik I, Klinikum der Johann Wolfgang Goethe--Universität Frankfurt am Main, Frankfurt am Main, Germany. kuhli@med.uni-frankfurt.de
Jochmans
Kristin
K
Scharrer
Inge
I
Lüchtenberg
Marc
M
Hattenbach
Lars-Olof
LO
D000328:Adult; D004252:DNA Mutational Analysis; D005337:Fibrin / Q000172:deficiency* / Q000235:genetics*; D006801:Humans; D007122:Immunoelectrophoresis; D008297:Male; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012170:Retinal Vein Occlusion / Q000175:diagnosis / Q000235:genetics*; D017422:Sequence Analysis, DNA
D005337:Fibrin