Journal Article

Genetic testing and diagnosis of inherited retinal diseases

Yoon, Dan, Trzupek, Karmen, Black, Graeme, Ong, Tuyen, Leroy, Bart P., Lam, Byron L.

2021

Overview

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.

• Publisher: BioMed Central,BioMed Central Ltd,Springer Nature B.V,BMC
• Subject: Asymptomatic / Blindness / Case studies / Degenerative diseases / Diagnosis / Disease / Gene therapy / Genetic aspects / Genetic Counseling / Genetic disorders / Genetic screening / Genetic Testing / Genetics / Genomes / Genomics / Human Genetics / Humans / Inherited retinal disease / Medical diagnosis / Medical research / Medicine / Medicine & Public Health / Methods / Molecular diagnosis / Mutation / Ophthalmology / Pharmacology/Toxicology / Rare diseases / Rare opthalmological diseases / Retina / Retinal diseases / Retinal Diseases - diagnosis / Retinal Diseases - genetics / Retinal Dystrophies - genetics / Review / Risk factors / Visual impairment