Gottlob I, Leipert K P, Kohlschütter A, Goebel H H
Department of Experimental Ophthalmology, Max-Planck-Institute for Physiological and Clinical Research, Bad Nauheim, Federal Republic of Germany.
Graefes Arch Clin Exp Ophthalmol. 1988;226(6):516-21. doi: 10.1007/BF02169198.
Nineteen obligate heterozygotes, 8 individuals at risk of being heterozygote, and 10 patients afflicted with four different forms of neuronal ceroid lipofuscinosis were examined electrophysiologically. The group of obligate heterozygotes was compared to age-matched control groups. Statistically significant differences were found between scotopic b-wave amplitudes, P-ERG amplitudes, and EOG light peaks of the obligate carriers of the juvenile type and the control subjects. The photopic L-ERGs and the latencies of the VEPs were mostly within the normal range. The findings represent the first evidence of functional ophthalmological changes in obligate carriers of neuronal ceroid lipofuscinosis and demonstrate that heterozygotes with certain hereditary autosomal recessive diseases may manifest subtle functional signs.
对19名 obligate杂合子、8名有成为杂合子风险的个体以及10名患有四种不同形式神经元蜡样脂褐质沉积症的患者进行了电生理检查。将 obligate杂合子组与年龄匹配的对照组进行比较。在青少年型 obligate携带者的暗视b波振幅、P-ERG振幅和EOG光峰与对照受试者之间发现了具有统计学意义的差异。明视L-ERG和VEP的潜伏期大多在正常范围内。这些发现代表了神经元蜡样脂褐质沉积症 obligate携带者功能性眼科变化的首个证据，并证明患有某些常染色体隐性遗传疾病的杂合子可能表现出细微的功能体征。
