Nikoskelainen E, Hoyt W F, Nummelin K
Arch Ophthalmol. 1983 Jul;101(7):1059-68. doi: 10.1001/archopht.1983.01040020061011.
Eighteen men and four women had Leber's disease. Fundus photographs obtained in three cases showed the following: Peripapillary microangiopathy, present from the beginning, slowly increased during the presymptomatic stage. At the end of the presymptomatic stage, the nerve fiber layer became swollen. During the acute stage, retinal vessels on and around the disc were dilated, tortuous, and telangiectatic. Nerve fiber layer hemorrhages occurred in two eyes. As atrophy appeared first in the papillomacular bundle and then in the remaining retina, the vascular bed involuted, leaving a capillary-poor retina with attenuated arterioles and a pale optic disc. The final degree of atrophy varied. Fifteen of the affected persons were blind with severe optic atrophy, but in seven optic atrophy was only partial, causing less visual handicap. Our results suggest that Leber's disease is primarily an intraocular, not a retrobulbar, optic neuropathy. It should be redesignated as Leber's hereditary neuroretinopathy.
18名男性和4名女性患有莱伯病。3例患者的眼底照片显示如下：视乳头周围微血管病变从一开始就存在，在症状前期缓慢加重。在症状前期结束时，神经纤维层肿胀。在急性期，视盘及其周围的视网膜血管扩张、迂曲且呈毛细血管扩张状。两只眼睛出现了神经纤维层出血。由于萎缩首先出现在乳头黄斑束，然后出现在其余视网膜，血管床逐渐退化，留下一个毛细血管稀少的视网膜，伴有小动脉变细和视盘苍白。萎缩的最终程度各不相同。15名患者因严重视神经萎缩而失明，但7名患者的视神经萎缩只是部分性的，导致的视力障碍较小。我们的结果表明，莱伯病主要是一种眼内而非球后视神经病变。它应重新命名为莱伯遗传性神经视网膜病变。
