ArticlePloS one2012
Identification of a potential susceptibility locus for macular telangiectasia type 2.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
What it found
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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
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Who cites it
20 citing papers in PubMed.
- Genetic Background of Macular Telangiectasia Type 2.International journal of molecular sciences · 2025Review
- Plasmid Gene Therapy for Monogenic Disorders: Challenges and Perspectives.Pharmaceutics · 2025Review
- Unraveling the mysteries of macular telangiectasia 2: the intersection of philanthropy, multimodal imaging and molecular genetics. The 2022 founders lecture of the pan American vitreoretinal society.International journal of retina and vitreous · 2023Review
- iPSC-derived retinal pigmented epithelial cells from patients with macular telangiectasia show decreased mitochondrial function.The Journal of clinical investigation · 2023Article
- Macular Telangiectasia Type 2: A Comprehensive Review.Clinical ophthalmology (Auckland, N.Z.) · 2022Review
- Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease.Nature metabolism · 2021Article
- Systemic lipid dysregulation is a risk factor for macular neurodegenerative disease.Scientific reports · 2020Article
- FLUORESCENCE LIFETIME IMAGING OPHTHALMOSCOPY (FLIO) PATTERNS IN CLINICALLY UNAFFECTED CHILDREN OF MACULAR TELANGIECTASIA TYPE 2 (MACTEL) PATIENTS.Retina (Philadelphia, Pa.) · 2020Article
- Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy.The New England journal of medicine · 2019Article
- Management of Idiopathic Macular Telangiectasia Type 2.Ophthalmology and therapy · 2019Review
- Genetic Penetrance of Macular Telangiectasia Type 2.JAMA ophthalmology · 2018Article
- Review of clinical approaches in fluorescence lifetime imaging ophthalmoscopy.Journal of biomedical optics · 2018Review
- Fluorescence Lifetime Imaging Ophthalmoscopy: A Novel Way to Assess Macular Telangiectasia Type 2.Ophthalmology. Retina · 2018Article
- CONCURRENT IDIOPATHIC MACULAR TELANGIECTASIA TYPE 2 AND CENTRAL SEROUS CHORIORETINOPATHY.Retina (Philadelphia, Pa.) · 2018Observational
- Genome-wide analyses identify common variants associated with macular telangiectasia type 2.Nature genetics · 2017Article
- Macular telangiectasia type 2 accompanied by solitary retinal astrocytic hamartoma (case report).BMC ophthalmology · 2016Article
- A new CRB1 rat mutation links Müller glial cells to retinal telangiectasia.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2015Article
- Ciliary neurotrophic factor for macular telangiectasia type 2: results from a phase 1 safety trial.American journal of ophthalmology · 2015Article
- Macular telangiectasia type 2.Progress in retinal and eye research · 2013Review
- Characterization of the Retinal Phenotype Using Multimodal Imaging in Novel Compound Heterozygote Variants of CYP2U1.Ophthalmology scienceArticle
Corrections and comments
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Authors and funding
11 authors.
Funding
Abstract
Macular Telangiectasia type 2 (MacTel) is a relatively rare macular disease of adult onset presenting with distortions in the visual field and leading to progressive loss of visual acuity. For the purpose of a gene mapping study, several pedigrees were ascertained with multiple affected family members. Seventeen families with a total of 71 individuals (including 45 affected or possibly affected) were recruited at clinical centers in 7 countries under the auspices of the MacTel Project. The disease inheritance was consistent with autosomal dominant segregation with reduced penetrance. Genome-wide linkage analysis was performed, followed by analysis of recombination breakpoints. Linkage analysis identified a single peak with multi-point LOD score of 3.45 on chromosome 1 at 1q41-42 under a dominant model. Recombination mapping defined a minimal candidate region of 15.6 Mb, from 214.32 (rs1579634; 219.96 cM) to 229.92 Mb (rs7542797; 235.07 cM), encompassing the 1q41-42 linkage peak. Sanger sequencing of the top 14 positional candidates genes under the linkage peak revealed no causal variants in these pedigrees.
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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.