Lanier J D, McCrary J A, Justice J
Arch Ophthalmol. 1976 Oct;94(10):1737-42. doi: 10.1001/archopht.1976.03910040511009.
Three of four siblings of normal parents had a combination of Coats disease and retinitis pigmentosa bilaterally. Our report of their respective cases is, to our knowledge, the first report of a familial incidence of the combination of the two diseases in an individual and supports the implication that Coats disease may be a genetic abnormality. The pathological process was essentially the same in all three patients, although it occurred differently in one of the three siblings and gave rise to an altered functional and clinical picture. The similarities may indicate that the convenient categories of "tapeto-retinal degenerations" are clinical variations of the same genetic abnormality.
父母正常的四个兄弟姐妹中有三人双侧患有科茨病和色素性视网膜炎。据我们所知，我们对他们各自病例的报告是关于这两种疾病在个体中家族性发病的首次报告，并支持科茨病可能是一种基因异常的观点。尽管在三个兄弟姐妹中的一人身上发病情况有所不同，并导致了功能和临床表现的改变，但所有三名患者的病理过程基本相同。这些相似之处可能表明，“视网膜色素变性”这一便捷分类是同一基因异常的临床变异。
