同一家庭3个姐妹色觉障碍(英文)

Color vision deficiency of three sisters in the same family

目的:评价我校医学生和她的家庭成员先天色觉障碍的遗传特征,以建立其遗传模式。方法:运用Ishihara(石原)假同色图试验测定色觉障碍,用FW100色调试验评估其类型。并进行眼科检查和遗传学研究,建立色盲家谱,并对她的家庭给予遗传学咨询。结果:眼科检测结果显示双眼最佳矫正视力为20/20(1.0),近视矫正屈光度-2D,裂隙灯检测和眼压测量结果在正常范围,眼底镜检查视神经、黄斑和周边视网膜均正常,其它外眼评估和神经学检测正常,先证者的姐妹和她父母的眼科检测也正常,3姐妹和父亲的IPPT试验错误得分为19～20/25,结果和红绿色盲中绿色觉异常者一致。染色体分析和卵巢周期均正常。结论:根据她家谱,她的色盲是伴X染色体的隐性外显率模式的遗传特征。

AIM： To evaluate genetic characteristics of congenital color vision deficiency of our medical student and her family subjects for establishing the mode of inheritance. METHODS： Ishihara Plate Test （IPPT） was used for determining the color vision deficiency and Farnsworth 100 Hue test （F100HT） was done for evaluating the type of color vision deficiency. Family pedigree was established for the color blindness, ophthalmologic examinations and genetic studies were done. Genetic counseling was given to her family. RESULTS： Ocular examination revealed best correction bilateral visual acuity of 20/20 in both eyes, with myopic correction （-2.0D）. Slit-lamp examination and intraocular pressure measurement were within normal limits and funduscopy revealed normal optic nerve, macula and retinal periphery. All other external ocular assessment and neurological examinations were normal. Proband＇s sisters and her parents＇ ophthalmic examinations were also normal. The error scores of three sisters and their father were found 19-20/25 in IPPT. The results were consistent as deutran of red-green color blindness. The chromosome analyses and ovarian cycles were both normal. CONCLUSION： According to her family pedigree, her color blindness was due to X-linked recessive penetrance mode of inheritance.