Long-term functional and structural outcomes in X-linked retinoschisis: implications for clinical trials

Autor: Beau J. Fenner, Jonathan F. Russell, Arlene V. Drack, Alina V. Dumitrescu, Elliott H. Sohn, Stephen R. Russell, H. Culver Boldt, Louisa M. Affatigato, Jeremy M. Hoffmann, Jeaneen L. Andorf, Edwin M. Stone, Ian C. Han

Publikováno v: Frontiers in Medicine, Vol 10 (2023)

IntroductionX-linked retinoschisis (XLRS) is an inherited retinal disease (IRD) caused by pathogenic mutations in the retinoschisin gene, RS1. Affected individuals develop retinal layer separation, leading to loss of visual acuity (VA). Several XLRS

Externí odkaz: https://doaj.org/article/76e26a92aacb4127a7bd34e7fd209fac

Parental genetic knowledge and attitudes toward childhood genetic testing for inherited eye diseases

Autor: Yu Zhang, Sijian Huang, Huiming Xiao, Xiaoyan Ding

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)

Abstract Background This study aimed to explore the parental genetic knowledge and attitudes toward childhood genetic testing of the inherited eye diseases (IEDs) in China. Methods This is a cross‐sectional survey. All parents were assessed via sel

Externí odkaz: https://doaj.org/article/47ba28b030f24f07b50f6252edcfb290

Genetic counseling practice for inherited eye diseases in an Israeli medical center during the COVID‐19 pandemic

Autor: Claudia Yahalom, Avital Eilat, Michal Macarov, Nina Schneider

Publikováno v: Journal of Genetic Counseling

Inherited eye diseases (IED) are among the most common causes for childhood and young adulthood blindness in developed countries. Genetic counseling and testing have become an essential part of caregiving for families affected by one of these severe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98ec12869f69062c6545811651b6d420
http://europepmc.org/articles/PMC8426981

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Clinical utility of genetic testing in 201 preschool children with inherited eye disorders

Autor: Jamie M Ellingford, Claire Hardcastle, William D Newman, Georgina Hall, Eva Lenassi, Susmito Biswas, Cecilia Fenerty, Graeme C.M. Black, Jane Ashworth, Stuart Ingram, Tracy Fletcher, Panagiotis I. Sergouniotis, I Chris Lloyd, Rachel L. Taylor, Jill Clayton-Smith, Simon C Ramsden, Vinod Kumar Sharma, Sofia Douzgou

Publikováno v: Lenassi, E, Clayton-Smith, J, Douzgou, S, Ramsden, S C, Ingram, S, Hall, G, Hardcastle, C L, Fletcher, T A, Taylor, R L, Ellingford, J M, Newman, W D, Fenerty, C, Sharma, V, Lloyd, I C, Biswas, S, Ashworth, J L, Black, G C & Sergouniotis, P I 2020, ' Clinical utility of genetic testing in 201 preschool children with inherited eye disorders ', Genetics in Medicine, vol. 22, no. 4, pp. 745-751 . https://doi.org/10.1038/s41436-019-0722-8
Genet Med
Genetics in Medicine

PURPOSE: A key property to consider in all genetic tests is clinical utility, the ability of the test to influence patient management and health outcomes. Here we assess the current clinical utility of genetic testing in diverse pediatric inherited e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06a85355a32cb8ccea2d93935efba0e5
https://doi.org/10.1038/s41436-019-0722-8