Enyedi L B, de Juan E, Gaitan A
Department of Ophthalmology, Duke University Eye Center, Durham, North Carolina 27710.
Am J Ophthalmol. 1991 Apr 15;111(4):439-45. doi: 10.1016/s0002-9394(14)72378-5.
We studied the clinicopathologic and ultrastructural features of a full-term infant with Norrie's disease. The infant had bilateral retrolental fibrous vascular masses and retinal detachment with no other apparent physical abnormalities and no family history of ocular defects. A vitrectomy and a membrane peeling were attempted, and specimens of the retina, the retrolental membrane, and a vascularized epiretinal peripheral mass were examined by light and electron microscopy. The retrolental membrane was composed of layered collagenous tissue and contained structures resembling blood vessels. Inner and outer neuroblastic layers were identified in the retinal tissue, but no vessels were present. In the epiretinal mass, portions of retina and cortical vitreous were seen along with primitive vascular structures. The histologic appearance of these specimens suggests that the major pathologic event of Norrie's disease occurs in the retina in the third to fourth gestational month. We believe the subsequent ocular abnormalities found in this patient were secondary to this early retinal malformation and did not represent a progressive ocular disorder.
我们研究了一名患有诺里病的足月儿的临床病理和超微结构特征。该婴儿双侧晶状体后有纤维血管肿块及视网膜脱离，无其他明显身体异常，且无眼部缺陷家族史。尝试进行了玻璃体切除术和膜剥离术，并通过光镜和电镜检查了视网膜、晶状体后膜以及视网膜前血管化周边肿块的标本。晶状体后膜由分层的胶原组织构成，含有类似血管的结构。在视网膜组织中可识别出内、外神经母细胞层，但无血管存在。在视网膜前肿块中，可见部分视网膜和皮质玻璃体以及原始血管结构。这些标本的组织学表现提示，诺里病的主要病理事件发生在妊娠第三个月至第四个月的视网膜。我们认为该患者随后出现的眼部异常是这种早期视网膜畸形的继发表现，并非进行性眼部疾病。
