Findings from a Genotyping Study of Over 1000 People with Inherited Retinal Disorders in Ireland.

ABSTRACT: The Irish national registry for inherited retinal degenerations (Target 5000) is a clinical and scientific program to identify individuals in Ireland with inherited retinal disorders and to attempt to ascertain the genetic cause underlying the disease pathology. Potential participants first undergo a clinical assessment, which includes clinical history and analysis with multimodal retinal imaging, electrophysiology, and visual field testing. If suitable for recruitment, a sample is taken and used for genetic analysis. Genetic analysis is conducted by use of a retinal gene panel target capture sequencing approach. With over 1000 participants from 710 pedigrees now screened, there is a positive candidate variant detection rate of approximately 70% (495/710). Where an autosomal recessive inhe

SUBMITTER: Whelan L 

PROVIDER: S-EPMC7016747 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature