Abstract
Retinitis pigmentosa (RP) is a clinically heterogenous disease that comprises a wide range of phenotypic and genetic subtypes. Pericentral RP is an atypical form of RP characterized by bone-spicule pigmentation and/or atrophy confined in the near mid-periphery of the retina. In contrast to classic RP, the far periphery is better preserved in pericentral RP. The aim of this study was to perform the first detailed clinical and genetic analysis of a cohort of European subjects with pericentral RP to determine the phenotypic features and the genetic bases of the disease. A total of 54 subjects from 48 independent families with pericentral RP, non-syndromic and syndromic, were evaluated through a full ophthalmological examination and underwent clinical exome or retinopathy gene panel sequencing. Disease-causative variants were identified in 22 of the 35 families (63%) in 10 different genes, four of which are also responsible for syndromic RP. Thirteen of the 34 likely pathogenic variants were novel. Intra-familiar variability was also observed. The current study confirms the mild phenotype of pericentral RP and extends the spectrum of genes associated with this condition.
Highlights
Pericentral Retinitis pigmentosa (RP) is an atypical form of RP characterized by bone-spicule pigmentation and/or atrophy confined in the near mid-periphery of the retina
Retinitis pigmentosa (RP) defines a clinically heterogeneous group of inherited retinal dystrophies presenting with bilateral, progressive degeneration of photoreceptors leading to night blindness, reduced-to-undetectable electroretinogram (ERG) amplitudes, peripheral field restriction, variable loss of central vision, and typical pigmentary degeneration of the retina [1]
The causative genes encode for proteins involved in a variety of fundamental processes that are responsible for the visual cycle, phototransduction, photoreceptor outer segment structure, and house-keeping functions such as transcription, RNA processing and ciliary function among others [2]
Summary
Retinitis pigmentosa (RP) defines a clinically heterogeneous group of inherited retinal dystrophies presenting with bilateral, progressive degeneration of photoreceptors (primarily rods) leading to night blindness, reduced-to-undetectable electroretinogram (ERG) amplitudes, peripheral field restriction, variable loss of central vision, and typical pigmentary degeneration of the retina [1]. Approximately 20–30% of patients have extra-ocular involvement. Over 130 genes have been found to be responsible for RP (http://www.sph.uth.tmc.edu/RetNet; accessed on September 2019), with approximately 90 genes responsible for isolated, non-syndromic RP and about 40 genes for syndromic forms. The causative genes encode for proteins involved in a variety of fundamental processes that are responsible for the visual cycle, phototransduction, photoreceptor outer segment structure, and house-keeping functions such as transcription, RNA processing and ciliary function among others [2]
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