Paroxysmal nocturnal hemoglobinuria may cause retinal vascular occlusions.
BACKGROUND
Paroxysmal nocturnal hemoglobinuria (PNH) is characterized by the classic triad of haemolytic anaemia, thrombophilia and cytopenia with the majority of cases occurring in adulthood. PNH constitutes a nonmalignant clonal disease of hematopoietic stem cells harboring somatic mutations in the X-linked phosphatidyl inositol glycan complementation group-A (PIG-A) gene.


METHODS
We report for the first time retinal venous vascular occlusion as the primary manifestation of PNH. A patient of untypical age for retinal vascular occlusions presented with a history of 4 weeks of progressive reduction in visual acuity.


RESULTS
The screening tests for thrombophilia were not successful. However, elevated LDH was detected, leading to the diagnosis of PNH.


CONCLUSIONS
To date, no report shows retinal vascular occlusion as the primary symptom leading to the diagnosis PNH. This article describes, for the first time, that this rare disease needs to be considered in the differential diagnosis of retinal vascular occlusions.
Scheuerle
Alexander F
AF
University Eye Hospital Heidelberg, INF 400, Heidelberg 69120, Germany. alexander.scheuerle@med.uni-heidelberg.de
Serbecic
Nermin
N
Beutelspacher
Sven C
SC
D001772:Blood Cell Count; D018958:CD55 Antigens / Q000032:analysis / Q000096:biosynthesis; D018957:CD59 Antigens / Q000032:analysis / Q000096:biosynthesis; D018797:Cell Cycle Proteins / Q000032:analysis / Q000378:metabolism; D003937:Diagnosis, Differential; D004912:Erythrocytes / Q000378:metabolism / Q000473:pathology; D005434:Flow Cytometry; D006457:Hemoglobinuria, Paroxysmal / Q000150:complications* / Q000378:metabolism / Q000473:pathology*; D006801:Humans; D007770:L-Lactate Dehydrogenase / Q000097:blood; D008297:Male; D008875:Middle Aged; D012170:Retinal Vein Occlusion / Q000209:etiology* / Q000378:metabolism / Q000473:pathology; D013927:Thrombosis / Q000175:diagnosis; D014792:Visual Acuity
C486562:CAPRIN1 protein, human; D018958:CD55 Antigens; D018957:CD59 Antigens; D018797:Cell Cycle Proteins; D007770:L-Lactate Dehydrogenase