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Genes 2017, 8(10), 256; doi:10.3390/genes8100256

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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Received: 11 July 2017 / Revised: 6 September 2017 / Accepted: 19 September 2017 / Published: 5 October 2017
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Abstract

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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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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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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