Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease

Article ID	Journal	Published Year	Pages	File Type
5705152	Ophthalmology	2017	18 Pages	PDF

Abstract

Genetic testing for inherited retinal disease is now more than 75% sensitive. A clinically directed tiered testing strategy can increase sensitivity and improve statistical significance without increasing cost.

Keywords

CSNB ISCEV TA cloning VVD BWA Missense HPCD FEVR LCHAD GATK LHON IVS Retinitis pigmentosa RPE ARMS EPP CRISPR HMA NGS ERG FGR BBS ExAC Leber congenital amaurosis Genome Analysis Toolkit Autosomal Dominant Autosomal recessive LCA Mito electroretinogram retinal pigment epithelium clustered regularly interspaced short palindromic repeats Next-generation sequencing amplification refractory mutation system intervening sequence Maternally inherited diabetes and deafness Acute zonal occult outer retinopathy Bardet-Biedl Syndrome lysogeny broth TERM X-linked Mitochondrial Midd Leber hereditary optic neuropathy polymerase chain reaction PCR Familial exudative vitreoretinopathy mis Exome Aggregation Consortium

Related Topics

Health Sciences Medicine and Dentistry Ophthalmology

Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease

Authors

Edwin M. MD, PhD, Jeaneen L. BA, S. Scott PhD, Adam P. PhD, Joseph C. BS, Luan M. BA, Terry A. PhD, Robert F. PhD, Todd E. PhD, Val C. MD, PhD, Budd A. PhD,