肾上腺脑白质营养不良中的色觉缺陷。
Color vision defects in adrenomyeloneuropathy.
作者信息
Sack G H, Raven M B, Moser H W
机构信息
Kennedy Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205.
出版信息
Am J Hum Genet. 1989 Jun;44(6):794-8.
The relationship between abnormal color vision and adrenomyeloneuropathy (AMN) was investigated in 27 AMN patients and 31 age-matched controls by using the Farnsworth-Munsell 100 Hue test. Twelve (44%) of 27 patients showed test scores significantly above normal. The axes of bipolarity determined by the testing differed widely between the patients with abnormal scores, compatible with the notion that different alterations in visual pigment genes occur in different AMN kindreds. These observations confirm our earlier impression that the frequency of abnormal color vision is increased in these kindreds, and it supports our contentions that (1) AMN (and its companion, adrenoleukodystrophy) are very closely linked to the visual pigment loci at Xq28 and (2) this proximity might provide the opportunity to observe contiguous gene defects.
通过使用 Farnsworth-Munsell 100 色调测试，对 27 例肾上腺脑白质营养不良（AMN）患者和 31 名年龄匹配的对照者进行了异常色觉与肾上腺脑白质营养不良（AMN）之间关系的研究。27 例患者中有 12 例（44%）的测试分数显著高于正常水平。测试确定的双极性轴在分数异常的患者之间差异很大，这与不同 AMN 家族中视觉色素基因发生不同改变的观点相符。这些观察结果证实了我们早期的印象，即这些家族中异常色觉的频率增加，并且支持我们的观点：（1）AMN（及其伴发疾病肾上腺脑白质营养不良）与 Xq28 处的视觉色素基因座密切相关；（2）这种接近性可能提供观察相邻基因缺陷的机会。
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