Macular abnormalities and optic disk anomaly associated with a new PAX2 missense mutation
Macular abnormalities and optic disk anomaly associated with a new PAX2 missense mutation
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DOI：
10.1016/j.ajo.2004.07.021
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发表时间：
2005-01-01
影响因子：
4.2
通讯作者：
Sugiyama, K
中科院分区：
文献类型：
--
作者：
Higashide, T;Wada, T;Sugiyama, K
目的：报道一个黄斑异常伴视盘和肾脏异常的家族，并伴有新的PAX2错义突变。设计：观察性病例报告。方法：一名34岁女性，表现为水平眼震，视力差，慢性肾衰竭。她有双侧结肠盘异常和中央凹发育不全。她的母亲也有肾功能障碍和双侧视力受损。除视盘发育不良外，右眼中央凹发育不全，左眼色素性黄斑萎缩。对PAX2和PAX6的整个编码区进行突变筛选。结果：在先证者及其母亲中发现了PAX2外显子2杂合突变G755C，导致错义突变R71T。PAX6未检测到突变。结论：一种新的PAX2错义突变R71T除引起视盘和肾脏异常外，还可能引起黄斑异常。(C) 2005年Elsevier Inc.版权所有。
PURPOSE: To report a family with macular abnormalities accompanied by anomalies of the optic disk and kidney associated with a new PAX2 missense mutation.DESIGN: Observational case report.METHODS: A 34-year-old female presented with horizontal nystagmus, poor visual acuity, and chronic renal failure. She had bilateral colobomatous disk anomaly and foveal hypoplasia. Her mother also had renal dysfunction and bilaterally impaired vision. Besides the optic disk dysplasia, the fovea was hypoplastic in the right eye, whereas pigmented macular atrophy was observed in the left eye. The entire coding regions of PAX2 and PAX6 were screened for mutations.RESULTS: A heterozygous mutation G755C in exon 2 of PAX2 that results in a missense mutation, R71T, was identified in the proband and her mother. No mutations were detected in PAX6.CONCLUSIONS: A new PAX2 missense mutation, R71T, may cause macular abnormalities in addition to anomalies of the optic disk and the kidney. (C) 2005 by Elsevier Inc. All rights reserved.