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Privacy-aware community infrastructureMaasa Ogata, Takahiro Kogo, Hanako O. Ikeda, Takuro Kamei, Kazuya Morino, Shogo Numa, Manabu Miyata, Yuki Muraoka, Akitaka Tsujikawa
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Ueber familiares vorkommen von “Retinitis punctata albescens” (verbunden mit “Dystrophia marginalis cristallinea corneae”), Glitzern des Glaskorpers und anderen degenerativen Augenveranderungen
1937
Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2
10.1086/383228 · 2004
CYP4V2 in Bietti crystalline dystrophy: ocular localization, metabolism of ω-3-polyunsaturated fatty acids, and functional deficit of the p.H331P variant
10.1124/mol.112.080085 · 2012
Expression and characterization of CYP4V2 as a fatty acid omega-hydroxylase
10.1124/dmd.109.028530 · 2009
Reduction of lipid accumulation rescues Bietti crystalline dystrophy phenotypes
10.1073/pnas.1717338115 · 2018
CYP4V2 in Bietti's crystalline dystrophy: ocular localization, metabolism of ω-3-polyunsaturated fatty acids, and functional deficit of the p.H331P variant
10.1124/mol.112.080085 · 2012
Genetics of Bietti crystalline dystrophy
10.1097/apo.0000000000000209 · 2016
Ophthalmic genetics in China
10.3109/13816818309007148 · 1983
Bietti crystalline dystrophy: a clinicopathologic correlative study
Provenance
crossref
Confidence 100%
pubmed
Confidence 98%
unpaywall
Confidence 95%
datacite
Confidence 0%
10.1001/archopht.1989.01070010219026 · 1989
Detailed phenotypic and genotypic characterization of Bietti crystalline dystrophy
10.1016/j.ophtha.2013.11.042 · 2014
Gene replacement therapy in Bietti crystalline corneoretinal dystrophy: an open-label, single-arm, exploratory trial
10.1038/s41392-024-01806-3 · 2024
Treating Bietti crystalline dystrophy in a high-fat diet-exacerbated murine model using gene therapy
10.1038/s41434-020-0159-3 · 2020
AAV-mediated gene-replacement therapy restores viability of BCD patient iPSC-derived RPE cells and vision of Cyp4v3 knockout mice
10.1093/hmg/ddac181 · 2023
In vivo genome editing via CRISPR/Cas9-mediated homology-independent targeted integration for Bietti crystalline corneoretinal dystrophy treatment
10.1038/s41467-024-48092-9 · 2024
Outer retinal tubulation: a novel optical coherence tomography finding
10.1001/archophthalmol.2009.326 · 2009
Adaptive optics imaging of the outer retinal tubules in Bietti crystalline dystrophy
10.1038/eye.2016.22 · 2016
Relationship between outer retinal tubulation, retinal volume, and visual field in Bietti crystalline dystrophy
10.1007/s00417-025-06742-8 · 2025
Choroideremia: a clinical, electron microscopic, and biochemical report
10.1016/s0161-6420(84)34239-7 · 1984
Photoreceptor rosettes in autosomal dominant retinitis pigmentosa with reduced penetrance
10.1001/archopht.117.3.399 · 1999
High-resolution optical coherence tomography shows new aspects of Bietti crystalline retinopathy
10.1097/iae.0b013e3181c96a15 · 2010
Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy
10.1002/mgg3.109 · 2015
Three cases of outer retinal tubulation in Bietti's Crystalline Dystrophy
10.3341/jkos.2015.56.7.1141 · 2015
Outer retinal circular structures in patients with Bietti crystalline retinopathy
10.1136/bjo.2010.199356 · 2012
Outer retinal tubulation in inherited retinal degenerative disease
10.1097/iae.0b013e31828221ae · 2013
Characterization of neovascular age-related macular degeneration patients with outer retinal tubulations
10.1159/000346854 · 2013
High-resolution adaptive optics retinal imaging of cellular structure in choroideremia
10.1167/iovs.13-13454 · 2014
C2orf71 Mutations as a frequent cause of autosomal-recessive retinitis pigmentosa: Clinical analysis and presentation of 8 novel mutations
10.1167/iovs.17-21597 · 2017
Natural history of the central structural abnormalities in choroideremia: A prospective cross-sectional study
10.1016/j.ophtha.2016.10.022 · 2017
Retinal structure, function, and molecular pathologic features in gyrate atrophy
10.1016/j.ophtha.2011.09.017 · 2012
High-resolution images of retinal structure in patients with choroideremia
10.1167/iovs.12-10707 · 2013
Outer retinal tubulation in retinal dystrophies
10.1097/iae.0000000000001220 · 2017
Outer retinal tubulation in degenerative retinal disorders
10.1097/iae.0b013e318296b12f · 2013
Multimodal assessment of microscopic morphology and retinal function in patients with geographic atrophy
10.1167/iovs.12-11525 · 2013
Spectral domain optical coherence tomographic findings of Bietti crystalline dystrophy
10.1155/2014/739271 · 2014
Outer retinal tubulation in Bietti crystalline dystrophy associated with the retinal pigment epithelium atrophy
10.1097/iae.0000000000003697 · 2023
Ellipsoid zone mapping and outer retinal assessment in Stargardt disease
10.1097/iae.0000000000001716 · 2018
En face optical coherence tomography to detect and measure geographic atrophy
10.1167/iovs.15-17366 · 2015
En-face quantitative evaluation using ultra-high-resolution OCT of hyperreflective foci in neovascular age-related macular degeneration
10.1007/s10384-025-01219-x · 2025
Pigment epithelial detachment and leak point locations in central serous chorioretinopathy
10.1016/j.ajo.2024.01.012 · 2024
Widefield choroidal vasculature associated with future condition of subretinal fluid in central serous chorioretinopathy
10.1016/j.heliyon.2023.e18441 · 2023
Outer retinal tubulation in advanced age-related macular degeneration: optical coherence tomographic findings correspond to histology
10.1097/iae.0000000000000471 · doi-reference
Longitudinal structure-function analysis of molecularly-confirmed CYP4V2 Bietti Crystalline Dystrophy
10.1038/s41433-023-02791-7 · doi-reference
Retinal microstructural disorganization in persistent macular edema secondary to branch retinal vein occlusion: an adaptive optics OCT study
10.1038/s41598-026-50806-6 · doi-reference
Preferential locations of polypoidal lesions and adjacent pigment epithelium detachments in polypoidal choroidal vasculopathy in a Japanese population
10.1167/iovs.66.2.70 · doi-reference
Multimodal analysis of benign lobular inner nuclear layer proliferation
10.1016/j.oret.2025.07.013 · doi-reference
Evaluation of foveal cone and Müller cells in epiretinal membrane using adaptive optics OCT
10.1016/j.xops.2023.100362 · doi-reference
Cellular-scale photoreceptor remodeling after macular hole surgery examined by adaptive optics optical coherence tomography
10.1167/iovs.67.1.40 · doi-reference
Human foveal cone and Müller cells examined by adaptive optics optical coherence tomography
10.1167/tvst.10.11.17 · doi-reference