Scheuerle Alexander F, Serbecic Nermin, Beutelspacher Sven C
University Eye Hospital Heidelberg, INF 400, Heidelberg 69120, Germany.
Int Ophthalmol. 2009 Jun;29(3):187-90. doi: 10.1007/s10792-007-9188-9. Epub 2008 Apr 24.
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.
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.
The screening tests for thrombophilia were not successful. However, elevated LDH was detected, leading to the diagnosis of PNH.
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.
阵发性睡眠性血红蛋白尿（PNH）的特征为溶血性贫血、血栓形成倾向和血细胞减少这一经典三联征，大多数病例发生于成年期。PNH是一种造血干细胞的非恶性克隆性疾病，其X连锁磷脂酰肌醇聚糖补体A组（PIG-A）基因存在体细胞突变。
我们首次报告视网膜静脉血管阻塞作为PNH的主要表现。一名不符合视网膜血管阻塞典型发病年龄的患者，有4周渐进性视力下降病史。
血栓形成倾向的筛查试验未成功。然而，检测到乳酸脱氢酶升高，从而诊断为PNH。
迄今为止，尚无报告显示视网膜血管阻塞作为导致PNH诊断的主要症状。本文首次描述，在视网膜血管阻塞的鉴别诊断中需要考虑这种罕见疾病。
