Department of Internal Medicine, University of Utah Health Sciences Center, Salt Lake City, Utah 84132, USA.
Am J Med Genet A. 2012 Mar;158A(3):475-81. doi: 10.1002/ajmg.a.34437. Epub 2012 Feb 3.
We describe a novel inherited disorder consisting of idiopathic massive splenomegaly, cytopenias, anhidrosis, chronic optic nerve edema, and vision loss. This disorder involves three affected patients in a single non-consanguineous Caucasian family, a mother and two daughters, who are half-sisters. All three patients have had splenectomies; histopathology revealed congestion of the red pulp, but otherwise no abnormalities. Electron microscopic studies of splenic tissue showed no evidence for a storage disorder or other ultrastructural abnormality. Two of the three patients had bone marrow examinations that were non-diagnostic. All three patients developed progressive vision loss such that the two oldest patients are now blind, possibly due to a cone-rod dystrophy. Characteristics of vision loss in this family include early chronic optic nerve edema, and progressive vision loss, particularly central and color vision. Despite numerous medical and ophthalmic evaluations, no diagnosis has been discovered.
我们描述了一种新的遗传性疾病，其特征为特发性巨脾、血细胞减少、少汗、慢性视神经水肿和视力丧失。该疾病涉及一个非近亲的单一高加索家族中的 3 名受影响患者，包括一名母亲和两名女儿，她们是同父异母姐妹。所有 3 名患者均接受了脾切除术；组织病理学显示红髓充血，但无其他异常。脾脏组织的电子显微镜研究没有显示出存在贮积障碍或其他超微结构异常。其中 2 名患者进行了骨髓检查，但无法明确诊断。所有 3 名患者均出现进行性视力丧失，导致两名年龄较大的患者失明，可能是由于锥-杆营养不良所致。该家族的视力丧失特征包括早期慢性视神经水肿和进行性视力丧失，特别是中央视力和色觉。尽管进行了大量的医学和眼科评估，但仍未发现明确的诊断。
