蜡样脂褐质沉积症
Ceroid lipofuscinosis.
作者信息
Beckerman B L, Rapin I
出版信息
Am J Ophthalmol. 1975 Jul;80(1):73-7. doi: 10.1016/0002-9394(75)90872-7.
PMID:1155552
Abstract
Seven of ten patients with ceroid lipofuscinosis, including infantile, late infantile, juvenile, and atypical variants, presented with visual acuity loss. In the infantile case visual acuity loss was early and severe. Two patients with atypical variants did not develop ocular abnormalities. Children presenting with macular degeneration may have more extensive retinal involvement on electrophysiologic testing; neurologic evaluation may rule out the prodromal stages of lipofuscinosis.
摘要
十名蜡样脂褐质沉积症患者中有七名出现视力丧失，其中包括婴儿型、晚婴儿型、青少年型和非典型变体。在婴儿型病例中，视力丧失出现早且严重。两名非典型变体患者未出现眼部异常。出现黄斑变性的儿童在电生理检查中可能有更广泛的视网膜受累；神经学评估可排除脂褐质沉积症的前驱阶段。
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引用本文的文献
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Neuronal ceroid lipofuscinosis. Ocular histopathologic and electron microscopic studies in the late infantile, juvenile, and adult forms.神经元蜡样脂褐质沉积症。晚期婴儿型、青少年型和成人型的眼部组织病理学及电子显微镜研究。
Graefes Arch Clin Exp Ophthalmol. 1987;225(6):391-402. doi: 10.1007/BF02334164.
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Adult ceroid-lipofuscinosis (Kufs' disease) in two brothers. Retinal and visceral storage in one; diagnostic muscle biopsy in the other.两兄弟患成人蜡样脂褐质沉积症（库夫斯病）。其中一人有视网膜和内脏储存现象；另一人进行了诊断性肌肉活检。
Acta Neuropathol. 1979 Jan 12;45(1):67-72. doi: 10.1007/BF00691807.
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