摘要
目的:评估高度近视伴色觉缺失患者的遗传学特征和临床表现方法:就同一家族4代42个成员中有8位患者给予了详细的眼科检查,Ishihara盘和FM100H试验检测患者有无红绿色觉缺失,全视野视网膜电图评价其视网膜功能。结果:患者8位均因高度近视视力下降,其中6例有红绿色觉缺失,眼底检查显示以弥漫性视网膜脉络膜萎缩为特征的近视改变。2例患者ERG检查出现视杆细胞的暗适应异常和视锥细胞的反应消失,根据家系,红绿色觉缺失属X连锁的隐性遗传。结论:在这个家族成员中,同时发生的高度近视和色觉缺失可能有共同的遗传学基础。
AIM： To evaluate genetic characteristics and clinical findings in a family with high myopia and colour vision deficiency （CVD）.
METHOD： Eight affected subjects of 42 members in four generations of the same family underwent a complete ophthalmic examination. Classical and computer adapted Ishihara Plates and Farnsworth-Munsell 100 Hue （FM100H） tests were used for determining the red-green CVD and full-field electroretinography （ERG） was performed to evaluate retinal function.
RESULTS： Eight affected subjects had subnormal visual acuity due to high myopia. The results of colour vision tests were consistent with red-green CVD in six of these affected subjects. Fundus examination showed degenerative myopic changes characterized with generalized chorioretinal atrophy. Abnormal cone and rod dark-adaptation and diminished cone response in ERG were found in two subjects. According to family pedigree, it has been suggested that red-green CVD has X-linked recessive inheritance.
CONCLUSION： The concurrence of high myopia with CVD in the members of this family may show a possible evidence for an associate genetic basis on different disorders.
出处
《国际眼科杂志》
CAS
2007年第3期602-608,共7页
International Eye Science
关键词
高度近视
色觉缺失
先天性色盲
high myopia
colour vision deficiency
congenital colour blindness
