Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration.


Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts, USA. [Email]


With the advent of gene therapies for inherited retinal degenerations (IRDs), genetic diagnostics will have an increasing role in clinical decision-making. Yet the genetic cause of disease cannot be identified using exon-based sequencing for a significant portion of patients. We hypothesized that noncoding pathogenic variants contribute significantly to the genetic causality of IRDs and evaluated patients with single coding pathogenic variants in RPGRIP1 to test this hypothesis.


Inherited retinal degeneration,Intronic pathogenic variants,Noncoding pathogenic variants,RPGRIP1,genome sequencing,