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 th...

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Bibliographic Details
Published in:International ophthalmology 2009-06, Vol.29 (3), p.187-190
Main Authors: Scheuerle, Alexander F., Serbecic, Nermin, Beutelspacher, Sven C.
Format: Article
Language:English
Subjects:
Blood Cell Count
Case Report
CD55 Antigens - analysis
CD55 Antigens - biosynthesis
CD59 Antigens - analysis
CD59 Antigens - biosynthesis
Cell Cycle Proteins - analysis
Cell Cycle Proteins - metabolism
Diagnosis, Differential
Erythrocytes - metabolism
Erythrocytes - pathology
Flow Cytometry
Hemoglobinuria, Paroxysmal - complications
Hemoglobinuria, Paroxysmal - metabolism
Hemoglobinuria, Paroxysmal - pathology
Humans
L-Lactate Dehydrogenase - blood
Male
Medicine
Medicine & Public Health
Middle Aged
Ophthalmology
Retinal Vein Occlusion - etiology
Retinal Vein Occlusion - metabolism
Retinal Vein Occlusion - pathology
Thrombosis - diagnosis
Visual Acuity
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Summary: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.
ISSN:0165-5701
1573-2630
DOI:10.1007/s10792-007-9188-9