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Open AccessArticle

The Genetic Basis of Pericentral Retinitis Pigmentosa—A Form of Mild Retinitis Pigmentosa

Ocular Genomics Institute, Berman-Gund Laboratory for the Study of Retinal Degenerations, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02114, USA
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Genes 2017, 8(10), 256; https://doi.org/10.3390/genes8100256
Received: 11 July 2017 / Revised: 6 September 2017 / Accepted: 19 September 2017 / Published: 5 October 2017
Pericentral 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. View Full-Text
Keywords: pericentral; retinitis pigmentosa; pericentral retinitis pigmentosa; pericentral retinal degeneration; genotype/phenotype correlations; rhodopsin; HGSNAT pericentral; retinitis pigmentosa; pericentral retinitis pigmentosa; pericentral retinal degeneration; genotype/phenotype correlations; rhodopsin; HGSNAT
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Comander, J.; Weigel-DiFranco, C.; Maher, M.; Place, E.; Wan, A.; Harper, S.; Sandberg, M.A.; Navarro-Gomez, D.; Pierce, E.A. The Genetic Basis of Pericentral Retinitis Pigmentosa—A Form of Mild Retinitis Pigmentosa. Genes 2017, 8, 256.

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