ArticleOphthalmology2015
Visual Function in Carriers of X-Linked Retinitis Pigmentosa.
Article in Ophthalmology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 1 of them a synthesis that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
48 citing papers in PubMed, 1 synthesis or guideline pooled it, 80 citations in OpenAlex.
- Profiling of visual acuity and genotype correlations in RP2 patients: a cross-sectional comparative meta-analysis between carrier females and affected males.Eye (London, England) · 2023Pooled it
- Natural history of retinitis pigmentosa based on genotype, vitamin A/E supplementation, and an electroretinogram biomarker.JCI insight · 2023Trial
- First Exonic Cryptic Branchpoint Variant in an Inherited Retinal Degeneration Detected in an IrishGenes · 2026Article
- Comparative Analysis of Retinal Structure and Function in Female Carriers of Choroideremia and X-Linked Retinitis Pigmentosa.Translational vision science & technology · 2026Article
- Eight-year follow-up of phenotypic progression in a Chinese XLRP pedigree with a novelFrontiers in genetics · 2026Article
- Insights IntoHuman mutation · 2026Review
- Retinitis Pigmentosa GTPase regulator-Associated Retinal Degeneration: Integrating Patient-Reported Outcomes, Genetic, and Structural Biomarkers.Ophthalmology science · 2026Article
- The Impacts of Caregiving for Patients with X-Linked Retinitis Pigmentosa (XLRP): Findings from the EXPLORE XLRP-2 Study.Advances in therapy · 2025Article
- Article
- Unveiling the Genetic and Phenotypic Landscape of a Chinese Cohort With Retinitis Pigmentosa.Molecular genetics & genomic medicine · 2025Article
- 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
- X-Linked Retinitis Pigmentosa.Advances in experimental medicine and biology · 2025Review
- Impacts of X-linked Retinitis Pigmentosa and Patient Pathways in European Countries: Results from the Cross-sectional EXPLORE XLRP-1 Physician Survey.Advances in therapy · 2024Article
- RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History in a Large Cohort of Female Carriers.American journal of ophthalmology · 2024Article
- Abnormal foveal morphology in carriers of oculocutaneous albinism.The British journal of ophthalmology · 2023Observational
- NDP-related retinopathies: clinical phenotype of female carriers.The British journal of ophthalmology · 2023Article
- Clinical characteristics of high myopia in female carriers of pathogenicOphthalmic genetics · 2023Review
- Asymmetric presentation with a novel RP2 gene mutation in X-Linked retinitis pigmentosa: a case report.BMC ophthalmology · 2023Article
- RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History.Ophthalmology · 2023Article
- Genetic spectrum, retinal phenotype, and peripapillary RNFL thickness in RPGR heterozygotes.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2023Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
purposeTo determine the frequency and severity of visual function loss in female carriers of X-linked retinitis pigmentosa (XLRP).
designCase series.
participantsTwo hundred seventy-six XLRP carriers with cross-sectional data (n = 242) and longitudinal data (n = 34; median follow-up, 16 years; follow-up range, 3-37 years). Half of the carriers were from RPGR- or RP2-genotyped families.
methodsRetrospective medical records review.
main outcome measuresVisual acuities, visual field areas, final dark adaptation thresholds, and full-field electroretinography (ERG) responses to 0.5-Hz and 30-Hz flashes.
resultsIn genotyped families, 40% of carriers showed a baseline abnormality on at least 1 of 3 psychophysical tests. There was a wide range of function among carriers. For example, 3 of 121 (2%) genotyped carriers were legally blind because of poor visual acuity, some as young as 35 years. Visual fields were less affected than visual acuity. In all carriers, the average ERG amplitude to 30-Hz flashes was approximately 50% of normal, and the average exponential rate of amplitude loss over time was half that of XLRP males (3.7%/year vs. 7.4%/year, respectively). Among obligate carriers with affected fathers, sons, or both, 53 of 55 (96%) had abnormal baseline ERG results. Some carriers who initially had completely normal fundi in both eyes went on to experience moderately decreased vision, although not legal blindness. Among carriers with RPGR mutations, those with mutations in ORF15, compared with those in exons 1-14, had worse final dark adaptation thresholds and lower 0.5-Hz and 30-Hz ERG amplitudes.
conclusionsMost carriers of XLRP had mildly or moderately reduced visual function but rarely became legally blind. In most cases, obligate carriers could be identified by ERG testing. Carriers of RPGR ORF15 mutations tended to have worse visual function than carriers of RPGR exon 1 through 14 mutations. Because XLRP carrier ERG amplitudes and decay rates over time were on average half of those of affected men, these observations were consistent with the Lyon hypothesis of random X-inactivation.
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Registered trials
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.