ArticleInvestigative ophthalmology & visual science2020
Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations.
Article in Investigative ophthalmology & visual science, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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Who cites it
35 citing papers in PubMed, 40 citations in OpenAlex.
- Aetiology, characteristics and workup of early onset high myopia.The British journal of ophthalmology · 2026Article
- Functional Outcomes and Ocular Safety of Subretinal AAV-RPGR Gene Therapy for RPGR-Associated X-Linked Retinitis Pigmentosa: A Systematic Review and Meta-Analysis.Journal of clinical medicine · 2026Review
- X-Linked Retinitis Pigmentosa (XLRP): An Investigation of the Impact of XLRP on Health-Related Quality of Life of Carers in Great Britain.Advances in therapy · 2026Article
- Pre-existing retinal inflammation exacerbates gene therapy-associated uveitis in more rapidly progressive retinal degeneration.Molecular therapy. Advances · 2026Article
- Article
- Clinical Characteristics and Genetic Factors in Retinitis Pigmentosa: A Retrospective Analysis of a Turkish Patient Cohort.Medical sciences (Basel, Switzerland) · 2026Article
- Retinitis Pigmentosa GTPase regulator-Associated Retinal Degeneration: Integrating Patient-Reported Outcomes, Genetic, and Structural Biomarkers.Ophthalmology science · 2026Article
- Eight-year follow-up of phenotypic progression in a Chinese XLRP pedigree with a novelFrontiers in genetics · 2026Article
- Review
- One down but many more to go: the state of gene therapy for inherited retinal disease.Regenerative medicine · 2025Review
- Cystoid Macular Edema in Non-Syndromic Retinitis Pigmentosa: Associations With Causative Genes in a Large Cohort.Investigative ophthalmology & visual science · 2025Article
- Analysis of choriocapillaris vascular density in patients with retinitis pigmentosa caused by RPGR gene mutations.BMC ophthalmology · 2025Article
- Retinitis Pigmentosa: From Genetic Insights to Innovative Therapeutic Approaches-A Literature Review.Medicina (Kaunas, Lithuania) · 2025Review
- The Impacts of Caregiving for Patients with X-Linked Retinitis Pigmentosa (XLRP): Findings from the EXPLORE XLRP-2 Study.Advances in therapy · 2025Article
- The Exponential Constriction Model of the Ellipsoid Zone in Taiwanese Individuals With RPGR-Related X-Linked Retinitis Pigmentosa.Investigative ophthalmology & visual science · 2025Article
- Article
- The burden of X-linked retinitis pigmentosa (XLRP) on patient experience and patient-reported outcomes (PROs): findings from the EXPLORE XLRP-2 study.Eye (London, England) · 2025Observational
- Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa.European journal of human genetics : EJHG · 2025Article
- Infantile Nystagmus Syndrome-Associated Inherited Retinal Diseases: Perspectives from Gene Therapy Clinical Trials.Life (Basel, Switzerland) · 2024Review
- Targeted long-read sequencing enriches disease-relevant genomic regions of interest to provide complete Mendelian disease diagnostics.JCI insight · 2024Article
Corrections and comments
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Authors and funding
12 authors at 6 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Purpose: The purpose of this study was to perform a detailed longitudinal phenotyping of X-linked retinitis pigmentosa (RP) caused by mutations in the RPGR gene during a long follow-up period. Methods: An Italian cohort of 48 male patients (from 31 unrelated families) with RPGR-associated RP was clinically assessed at a single center (mean follow-up = 6.5 years), including measurements of best-corrected visual acuity (BCVA), Goldmann visual field (GVF), optical coherence tomography (OCT), fundus autofluorescence (FAF), microperimetry, and full-field electroretinography (ERG). Results: Patients (29.6 ± 15.2 years) showed a mean BCVA of 0.6 ± 0.7 logMAR, mostly with myopic refraction (79.2%). Thirty patients (62.5%) presented a typical RP fundus, while the remaining sine pigmento RP. Over the follow-up, BCVA significantly declined at a mean rate of 0.025 logMAR/year. Typical RP and high myopia were associated with a significantly faster decline of BCVA. Blindness was driven primarily by GVF loss. ERG responses with a rod-cone pattern of dysfunction were detectable in patients (50%) that were significantly younger and more frequently presented sine pigmento RP. Thirteen patients (27.1%) had macular abnormalities without cystoid macular edema. Patients (50%) with a perimacular hyper-FAF ring were significantly younger, had a higher BCVA and a better-preserved ellipsoid zone band than those with markedly decreased FAF. Patients harboring pathogenic variants in exons 1 to 14 showed a milder phenotype compared to those with ORF15 mutations. Conclusions: Our monocentric, longitudinal retrospective study revealed a spectrum disease progression in male patients with RPGR-associated RP. Slow disease progression correlated with sine pigmento RP, absence of high myopia, and mutations in RPGR exons 1 to 14.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.