CEROID-LIPOFUSCINOSIS (BATTENS DISEASE) - PATHOGENESIS OF BLINDNESS IN THE OVINE MODEL
CEROID-LIPOFUSCINOSIS (BATTENS DISEASE) - PATHOGENESIS OF BLINDNESS IN THE OVINE MODEL
复制标题
DOI：
10.1111/j.1365-2990.1985.tb00025.x
复制
发表时间：
1985-01-01
影响因子：
5
通讯作者：
SLACK, PM
中科院分区：
文献类型：
--
作者：
MAYHEW, IG;JOLLY, RD;SLACK, PM
失明是一组被称为蜡样脂褐质沉积病的儿童储藏疾病的特征。在绵羊模型中进行的连续研究，最类似于人类疾病的幼年形式，清楚地表明失明有两个组成部分，中央和外周。由于神经元死亡和大脑皮层萎缩，中央部分是早期视力丧失的原因，而视网膜萎缩在疾病的晚期也是非常严重的。原发性视网膜病变是感光细胞外节的营养不良，先于感光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波逐渐消失，但在此之前，c波缩小，最终被负电位取代。然而，在整个研究期间，色素上皮在功能上（叠氮化物反应性）和超微结构上保持完整。伴有选择性脑萎缩的脑重量减轻也与异常行为和面部动作有关，这些行为和面部动作被解释为部分性癫痫发作，但没有变成全身性的。
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 photoreceptros 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 diminsihed 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 intrepreted as partial seizures that did not become generalized.