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Retinal structure in Leber's congenital amaurosis caused by RPGRIP1 mutations.
Human Genome Variation ( IF 1.0 ) Pub Date : 2019-06-27 , DOI: 10.1038/s41439-019-0064-8 Daisuke Miyamichi 1 , Sachiko Nishina 2 , Katsuhiro Hosono 1 , Tadashi Yokoi 2 , Kentaro Kurata 1 , Miho Sato 1 , Yoshihiro Hotta 1 , Noriyuki Azuma 2
Human Genome Variation ( IF 1.0 ) Pub Date : 2019-06-27 , DOI: 10.1038/s41439-019-0064-8 Daisuke Miyamichi 1 , Sachiko Nishina 2 , Katsuhiro Hosono 1 , Tadashi Yokoi 2 , Kentaro Kurata 1 , Miho Sato 1 , Yoshihiro Hotta 1 , Noriyuki Azuma 2
Affiliation
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This study aimed to evaluate retinal structure in the early stage of Leber's congenital amaurosis (LCA) caused by RPGRIP1 mutations. Four patients from two families were included. Case 1 was a 13-year-old girl, cases 2 and 3 were 7-year-old monozygotic twin brothers of case 1, and case 4 was a 17-year-old boy. Comprehensive ophthalmic examinations were performed, including visual acuity measurements, perimetry, electroretinography (ERG), and optical coherence tomography (OCT). To identify potential pathogenic mutations, 74 genes known to cause retinitis pigmentosa or LCA were assessed using targeted next-generation sequencing. OCT showed photoreceptor outer nuclear layer (ONL) thinning in all patients. The lamellar structure was retained in all patients, whereas the ellipsoid zone was extinguished in cases 1, 2, and 3. In case 4, the ellipsoid zone was maintained at 9 years of age but became blurred at 17 years of age. In case 1, OCT indicated slight photoreceptor ONL thinning during the period between 7 and 11 years of age. Mutation analysis revealed RPGRIP1 mutations as the cause for autosomal recessive LCA in all patients. Photoreceptor ONL on OCT is relatively well preserved in the early stage of LCA caused by RPGRIP1 mutations.
中文翻译：
RPGRIP1突变引起的莱伯先天性黑蒙的视网膜结构。
这项研究旨在评估由RPGRIP1突变导致的Leber先天性黑眼症（LCA）早期的视网膜结构。包括来自两个家庭的四名患者。病例1是一个13岁的女孩，病例2和3是病例1的7岁的单卵双胞胎兄弟，病例4是一个17岁的男孩。进行了全面的眼科检查，包括视敏度测量，视野检查，视网膜电图（ERG）和光学相干断层扫描（OCT）。为了鉴定潜在的致病突变，使用靶向的下一代测序对已知导致色素性视网膜炎或LCA的74个基因进行了评估。OCT显示所有患者的感光细胞外核层（ONL）变薄。在所有病例中，所有患者均保留了层状结构，而在病例1、2和3中，椭球区消失了。在病例4中，椭球区保持在9岁，但在17岁时变得模糊。在病例1中，OCT表明在7至11岁之间，感光细胞的ONL略有变薄。突变分析显示，RPGRIP1突变是所有患者常染色体隐性LCA的原因。在OCT上的感光受体ONL在由RPGRIP1突变引起的LCA的早期相对保存得很好。
更新日期：2019-06-27
中文翻译：
RPGRIP1突变引起的莱伯先天性黑蒙的视网膜结构。
这项研究旨在评估由RPGRIP1突变导致的Leber先天性黑眼症（LCA）早期的视网膜结构。包括来自两个家庭的四名患者。病例1是一个13岁的女孩，病例2和3是病例1的7岁的单卵双胞胎兄弟，病例4是一个17岁的男孩。进行了全面的眼科检查，包括视敏度测量，视野检查，视网膜电图（ERG）和光学相干断层扫描（OCT）。为了鉴定潜在的致病突变，使用靶向的下一代测序对已知导致色素性视网膜炎或LCA的74个基因进行了评估。OCT显示所有患者的感光细胞外核层（ONL）变薄。在所有病例中，所有患者均保留了层状结构，而在病例1、2和3中，椭球区消失了。在病例4中，椭球区保持在9岁，但在17岁时变得模糊。在病例1中，OCT表明在7至11岁之间，感光细胞的ONL略有变薄。突变分析显示，RPGRIP1突变是所有患者常染色体隐性LCA的原因。在OCT上的感光受体ONL在由RPGRIP1突变引起的LCA的早期相对保存得很好。
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