ArticleMolecular vision2009
Molecular characterization of retinitis pigmentosa in Saudi Arabia.
Article in Molecular vision, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 1 of them a synthesis that pooled it.
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
43 citing papers in PubMed, 1 synthesis or guideline pooled it.
- The genetics of rod-cone dystrophy in Arab countries: a systematic review.European journal of human genetics : EJHG · 2021Pooled it
- Ciliary Defects in Inherited Retinal Diseases.Advanced genetics (Hoboken, N.J.) · 2026Review
- Prevention and early intervention screening for inherited ocular diseases in Saudi Arabia: a national perspective.Frontiers in ophthalmology · 2025Review
- Rod-sparing in a bardet-biedl syndrome patient with mutations in the ARL6 gene.Documenta ophthalmologica. Advances in ophthalmology · 2024Article
- Autosomal Recessive Rod-Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant inCurrent issues in molecular biology · 2024Article
- Retinitis pigmentosa-1 due to anClinical case reports · 2024Article
- Unravelling the genetic basis of retinal dystrophies in Pakistani consanguineous families.BMC ophthalmology · 2023Article
- Genetic dissection of non-syndromic retinitis pigmentosa.Indian journal of ophthalmology · 2022Review
- Genotype-Phenotype Correlations inJournal of clinical medicine · 2021Article
- PrevalentGenes · 2021Article
- Novel mutations inInternational journal of ophthalmology · 2021Article
- Dominant RP in the Middle While Recessive in Both the N- and C-Terminals Due toFrontiers in cell and developmental biology · 2021Article
- Syndromic Inherited Retinal Diseases: Genetic, Clinical and Diagnostic Aspects.Diagnostics (Basel, Switzerland) · 2020Review
- Article
- Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing.Molecular genetics & genomic medicine · 2020Article
- BiallelicMolecular vision · 2020Article
- Detailed clinical characterisation, unique features and natural history of autosomal recessiveThe British journal of ophthalmology · 2019Article
- Photoreceptor Cilia and Retinal Ciliopathies.Cold Spring Harbor perspectives in biology · 2017Review
- Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye.Medical research archives · 2017Article
- Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration.JAMA ophthalmology · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo catalog mutations that underlie retinitis pigmentosa (RP) in Saudi Arabia using a representative sample.
methodsFifty-two patients with RP were recruited and their homozygosity mapping, with or without linkage analysis, was used to suggest the causative genes followed by bidirectional sequencing.
resultsMutations were identified in 94% of our study cohort, including seven that were novel.
conclusionsHomozygosity mapping is an extremely robust approach in the study of retinitis pigmentosa in the setting of high rates of consanguinity. BBS3 mutations can rarely present as nonsyndromic RP.
Indexed as
Identifiers
19956407PMC2786884What 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.