Genetic testing and diagnosis of inherited retinal diseases

Orphanet Journal of Rare Diseases

Byron L. Lam¹  Dan Yoon²  Bart P. Leroy³  Karmen Trzupek⁴  Tuyen Ong⁵  Graeme Black⁶ 

[1] Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, 900 NW 17th Street, 33156, Miami, FL, USA;Biogen, Cambridge, MA, USA;Department of Ophthalmology, Ghent University and Ghent University Hospital, Ghent, Belgium;Ophthalmic Genetics and Visual Electrophysiology, Division of Ophthalmology, Children’s Hospital of Philadelphia, Philadelphia, PA, USA;Ocular and Rare Disease Genetics Services, InformedDNA, St Petersburg, FL, USA;Ring Therapeutics, Cambridge, MA, USA;UK Inherited Retinal Disease Consortium, Manchester, UK;Genomics England Clinical Interpretation Partnership, Manchester, UK;Manchester Centre for Genomic Medicine, St. Mary’s Hospital, Manchester, UK;

关键词: Inherited retinal disease;    Ophthalmology;    Molecular diagnosis;    Genetic testing;    Genetic counseling;    Case studies;    Next-generation sequencing;   

DOI  :  10.1186/s13023-021-02145-0

来源: Springer

【 摘 要 】

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.

【 授权许可】

CC BY