ArticleInternational journal of molecular sciences2019
Clinical and Genetic Analysis of a European Cohort with Pericentral Retinitis Pigmentosa.
Article in International journal of molecular sciences, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 37 citations in OpenAlex.
- Variants in the leptin-MC4R pathway and ciliopathy-related genes in youths with obesity beyond hyperphagia and early onset.Journal of endocrinological investigation · 2026Article
- Age-Stratified Genetic Spectrum of Retinitis Pigmentosa in Korean Patients: Predominance ofAnnals of laboratory medicine · 2026Article
- Exome sequencing identifies a homozygous splice site variant inAnnals of medicine · 2025Article
- Retinitis Pigmentosa-Associated Gene TRIM49 Regulates ULK1-Mediated Autophagy and Photoreceptor Phagocytosis by the Retinal Pigment Epithelium.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Cystoid Macular Edema in Non-Syndromic Retinitis Pigmentosa: Associations With Causative Genes in a Large Cohort.Investigative ophthalmology & visual science · 2025Article
- Expanding Genetic and Clinical Spectra of Inherited Retinal Dystrophies: Identification of Three NovelBiomedicines · 2025Article
- Clinical Exome-Based Redefinition and Reclassification of Retinitis Pigmentosa.Journal of Korean medical science · 2025Article
- Clinical Characteristics and Visual Prognostic Biomarkers in Pericentral Retinitis Pigmentosa: A Study in a South Korean Cohort.Korean journal of ophthalmology : KJO · 2025Article
- A Novel Variant in TUBB4B Causes Progressive Cone-Rod Dystrophy and Early Onset Sensorineural Hearing Loss.Molecular genetics & genomic medicine · 2025Article
- Late-Onset Slowly Progressing Cone/Macular Dystrophy in Patients With the Biallelic Hypomorphic Variant p.Arg1933Ter in RP1.Translational vision science & technology · 2024Article
- Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypes.Scientific reports · 2024Observational
- Application of Electrophysiology in Non-Macular Inherited Retinal Dystrophies.Journal of clinical medicine · 2023Review
- An atypical form of retinitis pigmentosa: A case report.Clinical case reports · 2023Article
- Clinical Characteristics and Genetic Variants of a Large Cohort of Patients with Retinitis Pigmentosa Using Multimodal Imaging and Next Generation Sequencing.International journal of molecular sciences · 2023Article
- Unravelling the genetic basis of retinal dystrophies in Pakistani consanguineous families.BMC ophthalmology · 2023Article
- Correlation between the Serum Concentration of Vitamin A and Disease Severity in Patients Carrying p.G90D inInternational journal of molecular sciences · 2023Article
- Novel compound heterozygous variants in theFrontiers in cell and developmental biology · 2023Article
- Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.Scientific reports · 2022Article
- Genotypes Influence Clinical Progression in EYS-Associated Retinitis Pigmentosa.Translational vision science & technology · 2022Observational
- The structure-function correlation analysed by OCT and full field ERG in typical and pericentral subtypes of retinitis pigmentosa.Scientific reports · 2021Article
Corrections and comments
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Authors and funding
12 authors at 2 institutions in 1 country.
Funding
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.
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