日本人的眼遗传学

IF 2.1 3区 医学 Q2 OPHTHALMOLOGY Japanese Journal of Ophthalmology Pub Date : 2024-09-14 DOI:10.1007/s10384-024-01109-8
Yoshihiro Hotta, Kaoruko Torii, Masakazu Takayama
{"title":"日本人的眼遗传学","authors":"Yoshihiro Hotta, Kaoruko Torii, Masakazu Takayama","doi":"10.1007/s10384-024-01109-8","DOIUrl":null,"url":null,"abstract":"<p>In today’s globalized society, ophthalmologists can examine people of different ethnicities regardless of where they live. The frequency of disease-causing genes varies according to a patient’s ethnic background. We explain genetic findings for Japanese patients with inherited eye diseases. Ocular genetics has made great advances over the past 30 years. For example, detecting mutations at nucleotide position 11778 in mitochondrial DNA was useful in the genetic diagnosis of Leber’s hereditary optic neuropathy (LHON). I evaluated the genotype-phenotype relationship in cases of corneal dystrophy and inherited retinal dystrophy (IRD). I identified the entire exon sequence of the <i>eyes shut homolog</i> (<i>EYS</i>) gene in patients with autosomal recessive retinitis pigmentosa (RP). <i>EYS</i> gene mutations are the most frequent cause of autosomal recessive RP. <i>RPGRIP1</i> may be a common causative gene with early-onset severe retinal dystrophy, including Leber congenital amaurosis. However, some genes have complex structures that are difficult to analyze, including the <i>OPN1LW/OPN1MW</i> gene cluster in blue cone monochromacy and the <i>IKBKG/NEMO</i> genes in incontinentia pigmenti. This review will also present two cases with uniparental disomy, a case of IRD with double mutations, and a case with RP complicated with LHON-like neuropathy. Precise understanding of the effects of genetic variants may reveal differences in the clinical characteristics of patients with the same variant. When starting genome medicine, accurately diagnosing the patient, making accurate prediction, determining the genetic pattern, and providing genetic counseling are important. Above all, that both the doctors and patients understand genetic diseases correctly is important.</p>","PeriodicalId":14563,"journal":{"name":"Japanese Journal of Ophthalmology","volume":null,"pages":null},"PeriodicalIF":2.1000,"publicationDate":"2024-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Ocular genetics in the Japanese population\",\"authors\":\"Yoshihiro Hotta, Kaoruko Torii, Masakazu Takayama\",\"doi\":\"10.1007/s10384-024-01109-8\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p>In today’s globalized society, ophthalmologists can examine people of different ethnicities regardless of where they live. The frequency of disease-causing genes varies according to a patient’s ethnic background. We explain genetic findings for Japanese patients with inherited eye diseases. Ocular genetics has made great advances over the past 30 years. For example, detecting mutations at nucleotide position 11778 in mitochondrial DNA was useful in the genetic diagnosis of Leber’s hereditary optic neuropathy (LHON). I evaluated the genotype-phenotype relationship in cases of corneal dystrophy and inherited retinal dystrophy (IRD). I identified the entire exon sequence of the <i>eyes shut homolog</i> (<i>EYS</i>) gene in patients with autosomal recessive retinitis pigmentosa (RP). <i>EYS</i> gene mutations are the most frequent cause of autosomal recessive RP. <i>RPGRIP1</i> may be a common causative gene with early-onset severe retinal dystrophy, including Leber congenital amaurosis. However, some genes have complex structures that are difficult to analyze, including the <i>OPN1LW/OPN1MW</i> gene cluster in blue cone monochromacy and the <i>IKBKG/NEMO</i> genes in incontinentia pigmenti. This review will also present two cases with uniparental disomy, a case of IRD with double mutations, and a case with RP complicated with LHON-like neuropathy. Precise understanding of the effects of genetic variants may reveal differences in the clinical characteristics of patients with the same variant. When starting genome medicine, accurately diagnosing the patient, making accurate prediction, determining the genetic pattern, and providing genetic counseling are important. Above all, that both the doctors and patients understand genetic diseases correctly is important.</p>\",\"PeriodicalId\":14563,\"journal\":{\"name\":\"Japanese Journal of Ophthalmology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":2.1000,\"publicationDate\":\"2024-09-14\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Japanese Journal of Ophthalmology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1007/s10384-024-01109-8\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"OPHTHALMOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Japanese Journal of Ophthalmology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s10384-024-01109-8","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"OPHTHALMOLOGY","Score":null,"Total":0}
引用次数: 0

摘要

在当今全球化的社会中,眼科医生可以为不同种族的人进行检查,无论他们生活在哪里。致病基因的频率因患者的种族背景而异。我们为患有遗传性眼疾的日本患者解释遗传学研究结果。在过去的 30 年中,眼遗传学取得了长足的进步。例如,检测线粒体 DNA 第 11778 位核苷酸的突变有助于对 Leber 遗传性视神经病变(LHON)进行基因诊断。我评估了角膜营养不良症和遗传性视网膜营养不良症(IRD)病例的基因型与表型关系。我确定了常染色体隐性遗传视网膜色素变性(RP)患者的闭眼同源物(EYS)基因的整个外显子序列。EYS基因突变是导致常染色体隐性视网膜色素变性的最常见原因。RPGRIP1 可能是早发性严重视网膜营养不良症(包括 Leber 先天性无视力症)的常见致病基因。然而,有些基因结构复杂,难以分析,包括蓝锥单色性中的 OPN1LW/OPN1MW 基因簇和猪失禁症中的 IKBKG/NEMO 基因。本综述还将介绍两个单亲裂殖症病例、一个双突变 IRD 病例和一个并发 LHON 类神经病变的 RP 病例。准确了解基因变异的影响可能会发现具有相同变异的患者在临床特征上的差异。在开始基因组医疗时,准确诊断患者、准确预测、确定遗传模式和提供遗传咨询非常重要。最重要的是,医生和患者都要正确理解遗传疾病。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

摘要图片

查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
Ocular genetics in the Japanese population

In today’s globalized society, ophthalmologists can examine people of different ethnicities regardless of where they live. The frequency of disease-causing genes varies according to a patient’s ethnic background. We explain genetic findings for Japanese patients with inherited eye diseases. Ocular genetics has made great advances over the past 30 years. For example, detecting mutations at nucleotide position 11778 in mitochondrial DNA was useful in the genetic diagnosis of Leber’s hereditary optic neuropathy (LHON). I evaluated the genotype-phenotype relationship in cases of corneal dystrophy and inherited retinal dystrophy (IRD). I identified the entire exon sequence of the eyes shut homolog (EYS) gene in patients with autosomal recessive retinitis pigmentosa (RP). EYS gene mutations are the most frequent cause of autosomal recessive RP. RPGRIP1 may be a common causative gene with early-onset severe retinal dystrophy, including Leber congenital amaurosis. However, some genes have complex structures that are difficult to analyze, including the OPN1LW/OPN1MW gene cluster in blue cone monochromacy and the IKBKG/NEMO genes in incontinentia pigmenti. This review will also present two cases with uniparental disomy, a case of IRD with double mutations, and a case with RP complicated with LHON-like neuropathy. Precise understanding of the effects of genetic variants may reveal differences in the clinical characteristics of patients with the same variant. When starting genome medicine, accurately diagnosing the patient, making accurate prediction, determining the genetic pattern, and providing genetic counseling are important. Above all, that both the doctors and patients understand genetic diseases correctly is important.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
CiteScore
4.80
自引率
8.30%
发文量
65
审稿时长
6-12 weeks
期刊介绍: The Japanese Journal of Ophthalmology (JJO) was inaugurated in 1957 as a quarterly journal published in English by the Ophthalmology Department of the University of Tokyo, with the aim of disseminating the achievements of Japanese ophthalmologists worldwide. JJO remains the only Japanese ophthalmology journal published in English. In 1997, the Japanese Ophthalmological Society assumed the responsibility for publishing the Japanese Journal of Ophthalmology as its official English-language publication. Currently the journal is published bimonthly and accepts papers from authors worldwide. JJO has become an international interdisciplinary forum for the publication of basic science and clinical research papers.
期刊最新文献
Choroidal thickness in macular, nasal midperiphery, and temporal midperiphery regions and its relationship with axial length and refractive error. Usage status of biologics for the chronic treatment of optic neuritis in neuromyelitis optica spectrum disorders in Japan. Epiretinal membrane: an overview and update. Improvements in visual function early after cataract surgery in eyes implanted with multifocal intraocular lenses. One-year results of trabeculectomy with emphasis on the effect of patients' age.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1