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例1(先证者)李××女27岁于1992年5月26日普查眼病时发现。自幼视力很差,曾诊治过均无效。婚后生育一子,既往无全身及其它眼部疾病史,父母体健,非近亲结婚。母亲视力不好(经查无黄斑缺损为屈光不正),两个妹妹一个弟弟均患黄斑缺损。体检无异常发现。右眼视力3.6,左眼视力3.6,均不能矫正。眼压正常。左眼内斜25°,双眼前节正常。双眼视乳头呈腊黄色,边界清,视网膜呈灰白色,动脉细,血管行走至黄斑周围中断。双眼底后极部距
Example 1 (proband) Lee × × female 27 years old in May 26, 1992 census eye disease was found. Since childhood, poor vision, had diagnosis and treatment were invalid. Have a child after marriage, no previous history of systemic and other eye diseases, physical health parents, non-relatives get married. Poor vision of the mother (no macular defect by the investigation of refractive errors), two younger sister have a macular defect. No abnormal physical examination found. Right eye vision 3.6, left eye vision 3.6, can not be corrected. IOP normal. Left oblique 25 °, anterior segment of both eyes normal. Binocular papillae was wax yellow, the border clear, the retina was gray, thin arteries, blood vessels to the macula around the interruption. After the distance between both eyes