Stewart M W, Gitter K A
Foundation for Retinal Research, New Orleans, LA.
Am J Ophthalmol. 1988 Dec 15;106(6):675-81. doi: 10.1016/0002-9394(88)90699-x.
Four affected family members in two generations demonstrated an unusual, probably autosomal dominant, retinal vascular disorder called inherited retinal venous beading. The proband had retinal neovascularization, exudation, and vitreous hemorrhage. The other three affected family members had significant venous beading and varying degrees of arteriolar tortuosity. Family members with venous beading had low to normal leukocyte and neutrophil counts, which differed significantly from unaffected family members.
两代人中的四名患病家庭成员表现出一种不寻常的、可能为常染色体显性遗传的视网膜血管疾病,称为遗传性视网膜静脉串珠样改变。先证者有视网膜新生血管形成、渗出和玻璃体出血。其他三名患病家庭成员有明显的静脉串珠样改变和不同程度的小动脉迂曲。有静脉串珠样改变的家庭成员白细胞和中性粒细胞计数偏低至正常,这与未患病的家庭成员有显著差异。