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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。
OBJECTIVE: To evaluate the genetic characteristics of our school’s medical students and her family members with congenital color disorders to establish their genetic patterns. METHODS: Color vision disorders were determined using the Ishihara shading test and their type was assessed using the FW100 hue test. Conducted eye examinations and genetics studies, established a color-blind genealogy, and genetically consulted her family. Results: The results of ophthalmological examination showed that the best corrected visual acuity was 20/20 (1.0), myopia corrected diopter -2D, slit lamp test and intraocular pressure test were in the normal range, ophthalmoscopy retinal, macular and peripheral retina were normal, other Ophthalmic assessment and neurological tests were normal, and the sisters and parents of the probands were also ophthalmologically tested. The IPPT test scores of 3 sisters and daughters were 19 to 20/25 incorrectly and were consistent with those of the greenish-red blindness . Chromosome analysis and ovarian cycle were normal. Conclusion: Based on her pedigree, her color-blindness is a genetic feature of the recessive penetrance pattern of the X chromosome.