ArticleCurrent genomics2011
Diagnostic challenges in retinitis pigmentosa: genotypic multiplicity and phenotypic variability.
Article in Current genomics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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
44 citing papers in PubMed, 77 citations in OpenAlex.
- Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.Human genetics · 2015Trial
- Phagocytosis by retinal pigment epithelium and microglia does not affect vision restoration by P3HT nanoparticles in Retinitis pigmentosa.Cell death & disease · 2026Article
- Unveiling ZNF124 as a novel determinant in neurodegeneration: orchestration of photoreceptor homeostasis through MSX2 transcriptional regulation.Cell death & disease · 2026Article
- Toward Safer Diagnoses: A SEIPS-Based Narrative Review of Diagnostic Errors.Diagnostics (Basel, Switzerland) · 2026Review
- Longitudinal Changes in Peripapillary Retinal Nerve Fiber Layer Thickness in Patients with Retinitis Pigmentosa.Ophthalmology science · 2026Article
- Genetic Therapies for Retinitis Pigmentosa: Current Breakthroughs and Future Directions.Journal of clinical medicine · 2025Review
- Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss.European journal of human genetics : EJHG · 2025Article
- dCasMINI-mediated therapy rescues photoreceptors degeneration in a mouse model of retinitis pigmentosa.Science advances · 2024Article
- Clinical report and genetic analysis of a Chinese family with retinitis pigmentosa 79 caused by a novel loss-of-function HK1 variant.Genes & genomics · 2024Article
- When do patients with retinitis pigmentosa present to ophthalmologists? A multi-centre retrospective study.Eye (London, England) · 2024Article
- Inherited retinal dystrophies and orphan designations in the European Union.European journal of ophthalmology · 2024Review
- Article
- Metabolomics facilitates differential diagnosis in common inherited retinal degenerations by exploring their profiles of serum metabolites.Nature communications · 2024Article
- Loss of 15-Lipoxygenase in Retinodegenerative RCS Rats.International journal of molecular sciences · 2024Article
- Development of Novel Patient-Reported Outcome (PRO) and Observer-Reported Outcome (ObsRO) Instruments in Retinitis Pigmentosa (RP) and Leber Congenital Amaurosis (LCA): ViSIO-PRO and ViSIO-ObsRO.Ophthalmology and therapy · 2023Article
- Qualitative exploration of the visual function impairments and impacts on vision-dependent activities of daily living in Retinitis Pigmentosa and Leber Congenital Amaurosis: content validation of the ViSIO-PRO and ViSIO-ObsRO measures.Journal of patient-reported outcomes · 2023Article
- Retinitis Pigmentosa: Current Clinical Management and Emerging Therapies.International journal of molecular sciences · 2023Review
- Identification of novel variants in retinitis pigmentosa genes by whole-exome sequencing.Revista da Associacao Medica Brasileira (1992) · 2023Article
- Electrically-evoked responses for retinal prostheses are differentially altered depending on ganglion cell types in outer retinal neurodegeneration caused byFrontiers in cellular neuroscience · 2023Article
- Prevalence and associated factors of cystoid macular edema in children with early onset inherited retinal dystrophies.European journal of ophthalmology · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal disorders. Diagnosis can be challenging as more than 40 genes are known to cause non-syndromic RP and phenotypic expression can differ significantly resulting in variations in disease severity, age of onset, rate of progression, and clinical findings. We describe the clinical manifestations of RP, the more commonly known causative gene mutations, and the genotypic-phenotypic correlation of RP.
Indexed as
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What OpenQuestion holds
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.