Genetic testing and diagnosis of inherited retinal diseases.
Genetic testing and diagnosis of inherited retinal diseases.
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DOI：
10.1186/s13023-021-02145-0
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发表时间：
2021-12-14
影响因子：
3.7
通讯作者：
Trzupek K
中科院分区：
文献类型：
--
作者：
Lam BL;Leroy BP;Black G;Ong T;Yoon D;Trzupek K
遗传性视网膜疾病（IRD）是一组不同的视网膜退行性疾病，可导致视力显著下降和失明。由于IRD之间存在相当大的表型重叠，基因检测是获得受影响个体的明确诊断并使其能够获得新兴的基于基因治疗的治疗和正在进行的临床研究的关键步骤。虽然分子诊断技术的进步显着提高了对IRD的理解和致病变异的识别，但眼科医生的遗传诊断培训有限。在这篇综述中，我们将为眼科医生提供IRD基因检测的概述，包括可用的检测类型，变异解释和遗传咨询。此外，我们将通过案例研究讨论基因检测在IRD分子诊断中的临床应用。
Inherited retinal diseases (IRDs) are a diverse group of degenerative diseases of the retina that can lead to significant reduction in vision and blindness. Because of the considerable phenotypic overlap among IRDs, genetic testing is a critical step in obtaining a definitive diagnosis for affected individuals and enabling access to emerging gene therapy–based treatments and ongoing clinical studies. While advances in molecular diagnostic technologies have significantly improved the understanding of IRDs and identification of disease-causing variants, training in genetic diagnostics among ophthalmologists is limited. In this review, we will provide ophthalmologists with an overview of genetic testing for IRDs, including the types of available testing, variant interpretation, and genetic counseling. Additionally, we will discuss the clinical applications of genetic testing in the molecular diagnosis of IRDs through case studies.
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DOI：
10.1038/gim.2017.119
发表时间：
2018-04
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
Lionel AC;Costain G;Monfared N;Walker S;Reuter MS;Hosseini SM;Thiruvahindrapuram B;Merico D;Jobling R;Nalpathamkalam T;Pellecchia G;Sung WWL;Wang Z;Bikangaga P;Boelman C;Carter MT;Cordeiro D;Cytrynbaum C;Dell SD;Dhir P;Dowling JJ;Heon E;Hewson S;Hiraki L;Inbar-Feigenberg M;Klatt R;Kronick J;Laxer RM;Licht C;MacDonald H;Mercimek-Andrews S;Mendoza-Londono R;Piscione T;Schneider R;Schulze A;Silverman E;Siriwardena K;Snead OC;Sondheimer N;Sutherland J;Vincent A;Wasserman JD;Weksberg R;Shuman C;Carew C;Szego MJ;Hayeems RZ;Basran R;Stavropoulos DJ;Ray PN;Bowdin S;Meyn MS;Cohn RD;Scherer SW;Marshall CR
通讯作者：
Marshall CR
影响因子：
4.6
作者：
Bravo-Gil, Nereida;Gonzalez-del Pozo, Maria;Antinolo, Guillermo
通讯作者：
Antinolo, Guillermo
DOI：
10.1073/pnas.1913179117
发表时间：
2020-02-04
影响因子：
11.1
作者：
Hanany, Mor;Rivolta, Carlo;Sharon, Dror
通讯作者：
Sharon, Dror
影响因子：
17.8
作者：
Berger, Wolfgang;Kloeckener-Gruissem, Barbara;Neidhardt, John
通讯作者：
Neidhardt, John
DOI：
10.1002/ajmg.c.31825
发表时间：
2020-09
期刊：
American journal of medical genetics. Part C, Seminars in medical genetics
影响因子：
--
作者：
Mansfield BC;Yerxa BR;Branham KH
通讯作者：
Branham KH