Longitudinal clinical course of three Japanese patients with Leber congenital amaurosis/early-onset retinal dystrophy with RDH12 mutation
Longitudinal clinical course of three Japanese patients with Leber congenital amaurosis/early-onset retinal dystrophy with RDH12 mutation
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DOI：
10.1007/s10633-014-9436-z
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发表时间：
2014-06-01
影响因子：
1.4
通讯作者：
Iwata, Takeshi
中科院分区：
文献类型：
--
作者：
Kuniyoshi, Kazuki;Sakuramoto, Hiroyuki;Iwata, Takeshi
报道来自两个家族的3名日本Leber先天性黑蒙/早发性视网膜营养不良（LCA/EORD）患者的纵向临床病程和下一代DNA测序结果，患者为3名日本儿童：1名4岁女孩、1名6岁男孩和1名3岁女孩。患者1和2是兄弟姐妹，患者3来自无关的家庭。对每位患者进行标准眼科检查，包括视野检查、视网膜电图、光学相干断层扫描和超声检查。这些患者被观察了28年、16年和10年。使用下一代序列技术分析患者及其无症状父母的整个外显子组。在初次就诊时，小数视力在0.07和0.6之间变化，并在青少年时期下降到计算手指到手的运动。眼底镜检查显示弥漫性视网膜和黄斑变性。在追踪期间，一个后葡萄肿的发展和黄斑区变得萎缩。患者1在她20岁出头时患上白内障。基因分析显示所有患者的RDH 12基因均发生纯合A126 V置换，3例LCA/EORD患者视力逐渐下降，并形成后葡萄肿。这是第一个报告的日本患者LCA/EORD与RDH 12突变。
To report the longitudinal clinical course of three Japanese patients from two families with Leber congenital amaurosis/early-onset retinal dystrophy (LCA/EORD), and the results of next-generation DNA sequences on them.The patients were three Japanese children: a 4-year-old girl, a 6-year-old boy, and a 3-year-old girl. Patients 1 and 2 were siblings, and patient 3 was from an unrelated family. Standard ophthalmic examinations including perimetry, electroretinography, optical coherence tomography, and ultrasonography were performed on each patient. The patients were observed for 28, 16, and 10 years. Whole exomes of the patients and their non-symptomatic parents were analyzed using a next-generation sequence technique.The decimal visual acuity varied between 0.07 and 0.6 at the initial visit and decreased to counting finger to hand motion in their teens. Funduscopy showed diffuse retinal and macular degeneration. During the follow-up period, a posterior staphyloma developed and the macular area became atrophic. Patient 1 developed cataracts in her early twenties. Genetic analysis revealed a homozygous A126V substitution in the RDH12 gene in all patients.The three patients with LCA/EORD had a progressive decrease of their vision with the formation of a posterior staphyloma. This is the first report of Japanese patients with LCA/EORD with a RDH12 mutation.