[Retinal vein branch occlusion and palsy of the N. abducens in protein S deficiency].
BACKGROUND
Protein S deficiency, which exists in 0.7% of the population, is a risk factor for retinal vein branch occlusions and is inherited in an autosomal dominant manner.


METHODS
A genealogical study was carried out on three generations of one family who exhibited different venous occlusions and subsequent complications.


RESULTS
Four members of the family, spanning three generations, suffered from complications of venous thrombosis. In the first generation a great uncle died of complications from a deep leg venous thrombosis. In the second generation, the mother underwent a venous branch thrombosis at the age of 41 with a protein S activity of 18%. Subsequently, a palsy of the N. abducens developed with multiple cerebral lesions (presumably post-thrombotic) in the MRI. Fluorescein angiography showed a typical picture of a venous branch occlusion which had been treated by laser. In the third generation, the 16-year-old daughter developed iliac venous thrombosis and a pulmonary embolism with a protein S activity of 0%. The fluorescein angiography showed distinctively engorged veins. A 28-year-old daughter, with a protein S activity of 16%, remained asymptomatic, although fluorescein angiography demonstrated engorged veins. Protein C activity and APC resistance of all family members were normal. The chromosomal analysis of the family members revealed no morphological aberrations.


CONCLUSIONS
Protein S deficiency increases the risk of congenital thrombosis in young and middle-aged heterozygous individuals.
Holak
H M
HM
Gemeinschaftspraxis der Augenärzte im Rudolf-Virchow-Arztehaus, Salzgitter.
Holak
N H
NH
Holak
S
S
Holak
S A
SA
Szymaniec
S
S
D020434:Abducens Nerve Diseases / Q000175:diagnosis / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002893:Chromosomes, Human, Pair 3; D004252:DNA Mutational Analysis; D005260:Female; D005451:Fluorescein Angiography; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D020766:Intracranial Embolism / Q000175:diagnosis / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics; D017293:Protein S / Q000235:genetics; D018455:Protein S Deficiency / Q000175:diagnosis / Q000235:genetics*; D011655:Pulmonary Embolism / Q000175:diagnosis / Q000235:genetics; D012170:Retinal Vein Occlusion / Q000175:diagnosis / Q000235:genetics*; D019851:Thrombophilia / Q000175:diagnosis / Q000235:genetics; D020246:Venous Thrombosis / Q000175:diagnosis / Q000235:genetics
D017293:Protein S