François J
Surv Ophthalmol. 1982 May-Jun;26(6):293-333. doi: 10.1016/0039-6257(82)90124-2.
There are a number of metabolic diseases which cause tapetoretinal degeneration, suggesting that pure pigmentary retinopathy may also be metabolic in nature. On the other hand tapetoretinal degenerations may have various modes of inheritance, so we may conclude that the metabolic disorder at the basis of these diseases is not unique and that tapetoretinal degenerations are heterogenic. In this article, some 450 published reports on tapetoretinal degenerations are reviewed. Based on these reports, the clinical and ocular manifestations, laboratory and histopathological findings, inheritance patterns, and treatments of various syndromes characterized by tapetoretinal degenerations are described. It is hoped that the gathering together of this information in one source will acid in the future understanding of metabolically based eye disease.
有多种代谢性疾病会导致视网膜色素变性，这表明单纯性色素性视网膜病变在本质上也可能是代谢性的。另一方面，视网膜色素变性可能有多种遗传方式，因此我们可以得出结论，这些疾病所基于的代谢紊乱并非单一的，而且视网膜色素变性是异质性的。在本文中，对约450篇已发表的关于视网膜色素变性的报告进行了综述。基于这些报告，描述了以视网膜色素变性为特征的各种综合征的临床和眼部表现、实验室及组织病理学发现、遗传模式和治疗方法。希望将这些信息汇总在一个来源中，有助于未来对基于代谢的眼病的理解。
