ArticleThe British journal of ophthalmology2015
Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia.
Article in The British journal of ophthalmology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 25 citations in OpenAlex.
- Unraveling RP1-Associated Retinal Dystrophies: Comprehensive Genetic, Clinical, and Disease Progression Analysis in China.Translational vision science & technology · 2026Article
- Article
- Axial Length Profiles in Inherited Retinal Diseases-A Genotypic and Phenotypic Analysis.Investigative ophthalmology & visual science · 2025Article
- Development of posterior staphyloma in a child with retinitis pigmentosa and high myopia detected by Ultra-widefield Optical Coherence Tomography: A 4-year follow-up.American journal of ophthalmology case reports · 2025Article
- Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review.Investigative ophthalmology & visual science · 2023Article
- Phenotypic characterization of retinitis pigmentosa associated with deafnessBiomedica : revista del Instituto Nacional de Salud · 2022Article
- Genotype-Phenotype Analysis ofFrontiers in genetics · 2021Article
- Myopia with X-linked retinitis pigmentosa results from a novel gross deletion of RPGR gene.International journal of ophthalmology · 2020Article
- Insight into the molecular genetics of myopia.Molecular vision · 2017Review
- Novel mutations in CRB1 gene identified in a chinese pedigree with retinitis pigmentosa by targeted capture and next generation sequencing.Oncotarget · 2016Article
- Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing.PloS one · 2015Article
- Article
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Authors and funding
15 authors at 11 institutions in 5 countries.
Funding
Abstract
objectiveTo determine the refractive error in patients with autosomal recessive retinitis pigmentosa (arRP) caused by RP1 mutations and to compare it with that of other genetic subtypes of RP.
methodsTwenty-six individuals had arRP with RP1 mutations, 25 had autosomal dominant RP (adRP) with RP1 mutation, 8 and 33 had X-linked RP (xlRP) with RP2 and RPGR mutations, respectively, 198 and 93 had Usher syndrome and arRP without RP1 mutations, respectively. The median of the spherical equivalent (SE) and the IQR (Q25-Q75) was determined and multiple comparisons were performed.
resultsarRP patients with RP1 mutations had SE median at -4.0 dioptres (D) OD (Ocula Dextra); -3.88 D OS (Ocula Sinistra), whereas arRP patients without RP1 mutations (-0.50 D OD; -0.75 D OS) and Usher syndrome patients (-0.50 D OD; -0.38 D OS) were significantly less myopic (p<0.0001). Conversely, myopia of xlRP patients with either an RPGR mutation (-4.50 D OD; -5.25 D OS) or an RP2 mutation (-6.25 D OD; -6.88 D OS) was not significantly different from the arRP group with RP1 mutations. arRP without RP1 mutations, Usher syndrome and adRP with RP1 mutation had a narrow IQR (-9.06 to -1.13 D), whereas arRP with RP1 mutations and xlRP with RP2 or RPGR mutations had a larger range (-9.06; -1.13 D).
conclusionsarRP patients with RP1 mutations have myopia not different from patients with xlRP with RP2 or RPGR mutations, while RP patients from other genetic subgroups were emmetropic or mildly myopic. We suggest that arRP patients with high myopic refractive error should be preferentially analysed for RP1 mutations.
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