Mayhew I G, Jolly R D, Pickett B T, Slack P M
Neuropathol Appl Neurobiol. 1985 Jul-Aug;11(4):273-90. doi: 10.1111/j.1365-2990.1985.tb00025.x.
Blindness is a feature of the group of storage diseases of children known as the ceroid-lipofuscinoses. Sequential studies in the ovine model, which most resembles the juvenile form of human disease, showed clearly that blindness had two components, a central and a peripheral. Whereas the central component, attributable to neuronal death and atrophy of the cerebral cortex, was responsible for early loss of vision, retinal atrophy was also extremely advanced in terminal stages of the disease. The primary retinal change was one of dystrophy of photoreceptor outer segments which preceded degeneration and necrosis of the photoreceptors cells themselves. Electroretinography showed that there was a progressive loss of a- and b-waves during the course of the disease, but this was preceded by a diminished c-wave which was eventually replaced by a negative potential. However, the pigment epithelium remained functionally (azide responsive) and ultrastructurally intact throughout the study. Loss of brain weight with selective cerebral atrophy also correlated with abnormal behaviour and facial manoeuvres that were interpreted as partial seizures that did not become generalized.
失明是儿童一组称为蜡样脂褐质沉积症的储存疾病的特征。在最类似于人类疾病青少年形式的绵羊模型中进行的系列研究清楚地表明，失明有两个部分，一个是中央部分，一个是周边部分。中央部分归因于神经元死亡和大脑皮质萎缩，导致早期视力丧失，而在疾病末期视网膜萎缩也极其严重。主要的视网膜变化是光感受器外段营养不良，这先于光感受器细胞本身的变性和坏死。视网膜电图显示，在疾病过程中a波和b波逐渐丧失，但在此之前c波减弱，最终被负电位取代。然而，在整个研究过程中，色素上皮在功能上（对叠氮化物有反应）和超微结构上保持完整。脑重量减轻和选择性脑萎缩也与异常行为和面部动作相关，这些被解释为未泛化的部分性癫痫发作。
