Practical guide to genetic screening for inherited eye diseases.

ABSTRACT: Genetic eye diseases affect around one in 1000 people worldwide for which the molecular aetiology remains unknown in the majority. The identification of disease-causing gene variant(s) allows a better understanding of the disorder and its inheritance. There is now an approved retinal gene therapy for autosomal recessive RPE65-retinopathy, and numerous ocular gene/mutation-targeted clinical trials underway, highlighting the importance of establishing a genetic diagnosis so patients can fully access the latest research developments and treatment options. In this review, we will provide a practical guide to managing patients with these conditions including an overview of inheritance patterns, required pre- and post-test genetic counselling, different types of cytogenetic and genetic te

SUBMITTER: Mejecase C 

PROVIDER: S-EPMC7513416 | biostudies-literature | 2020 Jan-Dec

REPOSITORIES: biostudies-literature