波多黎各的乌舍尔综合征：一项临床与遗传学研究。
Usher syndrome in Puerto Rico: a clinical and genetic study.
作者信息
Colón-Casasnovas Jaime E, Izquierdo Natalio J, Millán Jose M
机构信息
Episcopal Hospital San Lucas, Ponce, PR.
出版信息
Bol Asoc Med P R. 2010 Oct-Dec;102(4):54-8.
PURPOSE
To evaluate patients with the Usher syn drome in Puerto Rico.
METHODS
Three patients with the Usher syndrome underwent an ophthalmic and audiologic evaluation; and genetic linkage analysis.
RESULTS
All patients were legally blind based on visual acuity and visual field results. Two patients had macular edema as shown on Stratus OCT. All patients had moderate hearing loss as part of the syndrome. A patient, and two family members had three mutations leading to protein changes including: p.S4588Y; p.Y4505C; and p.14474M.
CONCLUSIONS
Phenotypic findings in patients with the Usher syndrome in Puerto Rico are similar to those previously reported. However, to our knowledge, neither these mutations nor OCT findings have been previously described in patients with the syndrome.
目的
评估波多黎各患有尤塞综合征的患者。
方法
三名尤塞综合征患者接受了眼科和听力评估以及基因连锁分析。
结果
根据视力和视野结果，所有患者均为法定盲人。Stratus OCT显示两名患者有黄斑水肿。所有患者都有中度听力损失，这是该综合征的一部分。一名患者及其两名家庭成员有导致蛋白质变化的三种突变，包括：p.S4588Y；p.Y4505C；和p.14474M。
结论
波多黎各尤塞综合征患者的表型发现与先前报道的相似。然而，据我们所知，该综合征患者中此前尚未描述过这些突变和OCT检查结果。
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