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结晶样视网膜变性二家系报告

CHINESE JOURNAL OF OCULAR FUNDUS DISEASES(2005)

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Abstract
家系1患者姐弟2人于1997年4月21日由父母带领来我院就诊.其父母非近亲结婚.患者姐弟3人均于20~23岁间相继出现夜盲、视物不清,渐进性视力下降,经多家医院眼科检查,确诊为视网膜色素变性.为寻求医治,此次由父母带领姐弟二人前来我院就诊.患者中姐现37岁,23岁发病;弟现35岁,21岁发病.姐弟二人均双目失明.另有一妹20岁发病,发病后不久即投河自杀,去世多年.父母经眼科检查均未发现异常,视力均达1.0.
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