ArticleAmerican journal of human genetics2010
Dominant mutations in RP1L1 are responsible for occult macular dystrophy.
Article in American journal of human genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 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
56 citing papers in PubMed, 4 citations in OpenAlex.
- Cone dystrophy in patient with homozygous RP1L1 mutation.BioMed research international · 2015Trial
- Initial Site of Macular Involvement in Central Retinal Dystrophies Revealed by Fundus Autofluorescence and Optical Coherence Tomography.Investigative ophthalmology & visual science · 2026Article
- Clinical and Genetic Characteristics of a Chinese Occult Maculopathy Cohort.Translational vision science & technology · 2026Article
- Evolution of vitelliform maculopathy in a pediatric patient with a homozygousAmerican journal of ophthalmology case reports · 2025Article
- Review of Four Refined Clinical Entities in Hereditary Retinal Disorders from Japan.International journal of molecular sciences · 2025Review
- Phenotypic and Genotypic Characterization of RP1L1-Associated Retinopathy.Investigative ophthalmology & visual science · 2025Article
- tet2 and tet3 regulate cell fate specification and differentiation events during retinal development.Scientific reports · 2025Article
- tet2 and tet3 regulate cell fate specification and differentiation events during retinal development.bioRxiv : the preprint server for biology · 2024Article
- Varied clinical presentations of RP1L1 variants in Chinese patients: a study of occult macular dystrophy and vitelliform macular dystrophy.BMC ophthalmology · 2024Article
- Exome sequencing and genome-wide association analyses unveils the genetic predisposition in hydroxychloroquine retinopathy.Eye (London, England) · 2024Article
- Nationwide epidemiologic survey on incidence of macular dystrophy in Japan.Japanese journal of ophthalmology · 2024Article
- Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.Biomolecules · 2024Article
- Distinct Clinical Effects of Two RP1L1 Hotspots in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report 4.Investigative ophthalmology & visual science · 2024Article
- New recessive compound heterozygous variants ofInternational journal of ophthalmology · 2024Article
- Article
- A mild form of POC1B-associated retinal dystrophy with relatively preserved cone system function.Documenta ophthalmologica. Advances in ophthalmology · 2023Article
- Photoreceptor-Specific Temporal Contrast Sensitivities in RP1L1-Associated Occult Macular Dystrophy.Investigative ophthalmology & visual science · 2023Article
- Microstructural changes of photoreceptor layers detected by ultrahigh-resolution SD-OCT in patients with autosomal recessive bestrophinopathy.American journal of ophthalmology case reports · 2022Article
- Multimodal imaging evaluation of occult macular dystrophy associated with a novel RP1L1 variant.American journal of ophthalmology case reports · 2022Article
- Rare occult macular dystrophy with a pathogenic variant in the RP1L1 gene in a patient of Swiss descent.American journal of ophthalmology case reports · 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
14 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Occult macular dystrophy (OMD) is an inherited macular dystrophy characterized by progressive loss of macular function but normal ophthalmoscopic appearance. Typical OMD is characterized by a central cone dysfunction leading to a loss of vision despite normal ophthalmoscopic appearance, normal fluorescein angiography, and normal full-field electroretinogram (ERGs), but the amplitudes of the focal macular ERGs and multifocal ERGs are significantly reduced at the central retina. Linkage analysis of two OMD families was performed by the SNP High Throughput Linkage analysis system (SNP HiTLink), localizing the disease locus to chromosome 8p22-p23. Among the 128 genes in the linkage region, 22 genes were expressed in the retina, and four candidate genes were selected. No mutations were found in the first three candidate genes, methionine sulfoxide reductase A (MSRA), GATA binding 4 (GATA4), and pericentriolar material 1 (PCM1). However, amino acid substitution of p.Arg45Trp in retinitis pigmentosa 1-like 1 (RP1L1) was found in three OMD families and p.Trp960Arg in a remaining OMD family. These two mutations were detected in all affected individuals but in none of the 876 controls. Immunohistochemistry of RP1L1 in the retina section of cynomolgus monkey revealed expression in the rod and cone photoreceptor, supporting a role of RP1L1 in the photoreceptors that, when disrupted by mutation, leads to OMD. Identification of RP1L1 mutations as causative for OMD has potentially broader implications for understanding the differential cone photoreceptor functions in the fovea and the peripheral retina.
Indexed as
Identifiers
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.