Endogenous erythroid colony formation in patients with retinal vein occlusion.
OBJECTIVE
The pathophysiology and causes of retinal vein occlusion (RVO) remain largely unknown. Latent forms of myeloproliferative disorders, which are diagnosed by the presence of in vitro endogenous erythroid colony (EEC) formation, are a well-known cause of intraabdominal vein thrombosis. The suspected diagnosis of a latent myeloproliferative disorder in a patient with RVO, based on the presence of EEC formation, led us to evaluate the association between latent myeloproliferative disorders and RVO.


METHODS
Observational case series in a national eye center.


METHODS
Forty-four patients, with a mean age of 46 years (range, 21-62) and central (n = 38) or peripheral (n = 6) RVO responsible for visual acuity decreased to 6/12 or less.


METHODS
In vitro bone marrow culture.


METHODS
Endogenous erythroid colony formation in cytokine-free culture medium. Conventional diagnostic criteria for myeloproliferative disorders and the JAK2 V617F mutation (which is strongly associated with myeloproliferative disorders) were assessed in RVO patients showing EECs.


RESULTS
Endogenous erythroid colony formation was observed in 12 of 44 (27%) patients with RVO, 13 of 35 (37%) patients with Budd-Chiari syndrome, and 52 of 53 (98%) patients with primary polycythemia (positive control groups) but not in 22 healthy bone marrow donors (negative controls) evaluated at the same time and by the same hematology laboratory. Neither conventional nor genetic diagnostic criteria for myeloproliferative disorders were observed in any patient with both RVO and an EEC at the time of diagnosis or during follow-up.


CONCLUSIONS
Endogenous erythroid colony formation is frequently observed in patients with RVO independently of any detectable myeloproliferative disorder. This opens a new aspect of research on the pathophysiology of this sight-threatening disease.
Department of Internal Medicine, Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Paris, France. heron@quinze-vingts.fr
Emmanuel
E
Héron
Christophe
C
Marzac
Sylvie
S
Feldman-Billard
Jean-François
JF
Girmens
Michel
M
Paques
Richard
R
Delarue
Jean-Charles
JC
Piette
Nicole
N
Casadevall
Olivier
O
Hermine
D000328:Adult; D001853:Bone Marrow; D006502:Budd-Chiari Syndrome / Q000097:blood; D003114:Colony-Forming Units Assay; D041905:Erythroid Cells; D004920:Erythropoiesis / Q000502:physiology; D005260:Female; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D011087:Polycythemia Vera / Q000097:blood* / Q000235:genetics / Q000503:physiopathology; D012170:Retinal Vein Occlusion / Q000097:blood* / Q000503:physiopathology; D014792:Visual Acuity
C507924:JAK2 protein, human; D053614:Janus Kinase 2