Kuniyoshi Kazuki, Sakuramoto Hiroyuki, Yoshitake Kazutoshi, Abe Kosuke, Ikeo Kazuho, Furuno Masaaki, Tsunoda Kazushige, Kusaka Shunji, Shimomura Yoshikazu, Iwata Takeshi
Department of Ophthalmology, Kinki University Faculty of Medicine, 377-2 Ohno-Higashi, Osaka-Sayama City, Osaka, 589-8511, Japan,
Doc Ophthalmol. 2014 Jun;128(3):219-28. doi: 10.1007/s10633-014-9436-z. Epub 2014 Apr 22.
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.
报告来自两个家庭的三名日本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以及他们的下一代DNA测序结果。
患者为三名日本儿童，一名4岁女孩、一名6岁男孩和一名3岁女孩。患者1和患者2为 siblings，患者3来自一个无血缘关系的家庭。对每位患者进行了包括视野检查、视网膜电图、光学相干断层扫描和超声检查在内的标准眼科检查。对患者进行了28年、16年和10年的观察。使用下一代测序技术分析了患者及其无症状父母的全外显子组。
初次就诊时小数视力在0.07至0.6之间，十几岁时降至数指至手动。眼底检查显示弥漫性视网膜和黄斑变性。在随访期间，出现了后巩膜葡萄肿，黄斑区萎缩。患者1在二十出头时出现白内障。基因分析显示所有患者的RDH12基因均存在纯合A126V替代。
三名LCA/EORD患者视力逐渐下降，并形成后巩膜葡萄肿。这是首例关于具有RDH12突变的日本LCA/EORD患者的报告。
