Ultrastructure of the retina in adult neuronal ceroid lipofuscinosis.

Acta anatomica Pub Date : 1998-01-01 DOI:10.1159/000046477
H H Goebel, S S Schochet, M Jaynes, L Gutmann
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引用次数: 10

Abstract

A 33-year-old woman died of biopsy-proven adult neuronal ceroid lipofuscinosis (NCL) or Kufs' disease marked by fingerprint and curvilinear lipopigments in neural and nonneural cell types. She had never experienced visual impairment or shown electroretinographic abnormalities. At autopsy, her retina appeared intact without degeneration at the light-microscopic level, but nerve cells in different layers were loaded with lipopigments of the granular type. This appears to be the third ultrastructural study of the retina in a patient with adult NCL, a former one showing preservation of the retina, another retinal degeneration. Thus, only further molecular genetic data will clarify the nosology of adult NCL with and without retinal degeneration.

成人神经元样脂褐变视网膜的超微结构。
一名33岁妇女死于活组织检查证实的成人神经元样脂肪褐变病(NCL)或库夫斯病,其特征是神经和非神经细胞类型的指纹和曲线状脂肪色素。她从未经历过视力障碍或视网膜电图异常。尸检时,她的视网膜在光镜下看起来完好无损,没有变性,但不同层的神经细胞装载了颗粒型的脂质色素。这似乎是成人NCL患者视网膜的第三个超微结构研究,前一个显示视网膜保存,另一个视网膜变性。因此,只有进一步的分子遗传学数据才能阐明成人NCL伴或不伴视网膜变性的分类学。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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