Comander, JasonWeigel-DiFranco, CarolMaher, MatthewPlace, EmilyWan, AlieteHarper, ShyanaSandberg, MichaelNavarro-Gomez, DanielPierce, Eric2017-12-062017Comander, Jason, Carol Weigel-DiFranco, Matthew Maher, Emily Place, Aliete Wan, Shyana Harper, Michael A. Sandberg, Daniel Navarro-Gomez, and Eric A. Pierce. 2017. “The Genetic Basis of Pericentral Retinitis Pigmentosa—A Form of Mild Retinitis Pigmentosa.” Genes 8 (10): 256. doi:10.3390/genes8100256. http://dx.doi.org/10.3390/genes8100256.http://nrs.harvard.edu/urn-3:HUL.InstRepos:34493194Pericentral retinitis pigmentosa (RP) is an atypical form of RP that affects the near-peripheral retina first and tends to spare the far periphery. This study was performed to further define the genetic basis of this phenotype. We identified a cohort of 43 probands with pericentral RP based on a comprehensive analysis of their retinal phenotype. Genetic analyses of DNA samples from these patients were performed using panel-based next-generation sequencing, copy number variations, and whole exome sequencing (WES). Mutations provisionally responsible for disease were found in 19 of the 43 families (44%) analyzed. These include mutations in RHO (five patients), USH2A (four patients), and PDE6B (two patients). Of 28 putatively pathogenic alleles, 15 (54%) have been previously identified in patients with more common forms of typical RP, while the remaining 13 mutations (46%) were novel. Burden testing of WES data successfully identified HGSNAT as a cause of pericentral RP in at least two patients, suggesting it is also a relatively common cause of pericentral RP. While additional sequencing might uncover new genes specifically associated with pericentral RP, the current results suggest that genetically pericentral RP is not a separate clinical entity, but rather is part of the spectrum of mild RP phenotypes.en-USpericentralretinitis pigmentosapericentral retinitis pigmentosapericentral retinal degenerationgenotype/phenotype correlationsrhodopsinJournal Article2017-12-0610.3390/genes8100256