Night Blindness: Retinitis Pigmentosa sine Pigmento

Valentine, J. A.

doi:10.1177/003591572301601713

Cited by 2 publications

(1 citation statement)

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“…As mutations in so many different genes can cause essentially the same phenotype, this makes RP one of the most genetically heterogeneous diseases in humans. However, while RP is usually characterized by typical “bone-spicule” pigmentation and photoreceptor degeneration beginning in the mid-peripheral retina [ 2 , 3 , 4 ], it would be an oversimplification to say that all RP phenotypes are the same; several subtypes of RP have been clinically defined, including pericentral RP, sector RP, pigmented paravenous RP, and RP without pigment [ 5 , 6 , 7 , 8 ]. It remains to be determined to what extent these clinical subtypes stem from different genetic causes, or whether they are, for example, a reflection of variable expressivity of phenotypes due to mutations in the same set of genes [ 3 ].…”

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confidence: 99%

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

Comander

Weigel-DiFranco

Maher

et al. 2017

Genes

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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.

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