Kalmus H, Seedburgh D
J Med Genet. 1976 Aug;13(4):271-6. doi: 10.1136/jmg.13.4.271.
A genealogical link was established six generations back between a family living in England and Australia, and one of the families reported originally by Sorsby et al (1949) as suffering from autosomal dominant inflammatory macular dystrophy (fundus dystrophy). The onset--in the fifth decade of life--and the progress of the condition, which usually ends in blindness, has been observed in a number of patients and the prodromal development of a colour vision deficiency in some of them confirmed. This defect is fundamentally different from the X-linked colour vision defects and merits further investigation.
在一个生活在英国和澳大利亚的家族与最初由索斯比等人(1949年)报告的患有常染色体显性遗传性炎症性黄斑营养不良(眼底营养不良)的家族之一之间,建立了六代以前的谱系联系。在一些患者中观察到了该病的发病情况(发生在生命的第五个十年)以及病情进展,这种病情通常以失明告终,并且其中一些患者的色觉缺陷前驱期发展也得到了证实。这种缺陷与X连锁色觉缺陷有根本不同,值得进一步研究。