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.
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.
Authors: Madelyn S Hanson; Hao Xu; Timothy C Flewelen; Sandra L Holzhauer; Dawn Retherford; Deron W Jones; Anne C Frei; Kirkwood A Pritchard; Cheryl A Hillery; Neil Hogg; Nancy J Wandersee Journal: Am J Physiol Heart Circ Physiol Date: 2012-11-02 Impact factor: 4.733