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| Format: | Artículo científico |
| Language: | en |
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Japanese journal of ophthalmology
2026
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| Online Access: | https://pubmed.ncbi.nlm.nih.gov/41553438/ |
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| author | Tsuboi, Takeru Mizobuchi, Kei Yoshitake, Kazutoshi Kuniyoshi, Kazuki Kominami, Taro Ueno, Shinji Nishiguchi, Koji M Kusaka, Shunji Iwata, Takeshi Hayashi, Takaaki Nakano, Tadashi |
| author_facet | Tsuboi, Takeru Mizobuchi, Kei Yoshitake, Kazutoshi Kuniyoshi, Kazuki Kominami, Taro Ueno, Shinji Nishiguchi, Koji M Kusaka, Shunji Iwata, Takeshi Hayashi, Takaaki Nakano, Tadashi Tsuboi, Takeru Mizobuchi, Kei Yoshitake, Kazutoshi Kuniyoshi, Kazuki Kominami, Taro Ueno, Shinji Nishiguchi, Koji M Kusaka, Shunji Iwata, Takeshi Hayashi, Takaaki Nakano, Tadashi |
| collection | PubMed - marine biology |
| contents | Clinical and genetic characterization of REEP6-associated retinopathy in a Japanese cohort. Tsuboi, Takeru Mizobuchi, Kei Yoshitake, Kazutoshi Kuniyoshi, Kazuki Kominami, Taro Ueno, Shinji Nishiguchi, Koji M Kusaka, Shunji Iwata, Takeshi Hayashi, Takaaki Nakano, Tadashi Humans Female Male Retrospective Studies Japan Tomography, Optical Coherence Pedigree Adult Extracellular Matrix Proteins DNA Visual Acuity Phenotype Mutation DNA Mutational Analysis Middle Aged Child Young Adult Electroretinography Exome Sequencing Adolescent Retinal Dystrophies Fluorescein Angiography Fundus Oculi East Asian People To characterize the clinical and genetic features of REEP6-associated retinopathy in 8 Japanese patients from 7 families STUDY DESIGN: Retrospective, multicenter cohort study METHODS: Biallelic REEP6 variants were identified by use of whole-exome sequencing in patients with inherited retinal dystrophy (IRD). Comprehensive ophthalmic assessments were performed in all the patients. Among a nationwide cohort of 2011 patients with IRD, 8 patients from 7 families were found to carry biallelic REEP6 variants. Four distinct variants were identified: c.223G>A, p.Glu75Lys; c.268G>C, p.Val90Leu; c.280_281del, p.Leu94ValfsTer86 (novel frameshift), and c.598+1G>A. Five families (Families 1-5) carried the compound heterozygous p.Val90Leu and c.598+1G>A variants. The other two had either homozygous c.598+1G>A (Family 6) or compound heterozygous p.Glu75Lys/p.Leu94ValfsTer86 (Family 7). In Families 1-5, the patients exhibited relatively mild phenotypes with limited to peripheral retinal degeneration in the younger patients and gradual posterior pole involvement in the older patients. Optical coherence tomography revealed well-preserved outer retinal layers at the macula, and good visual acuity was maintained even in some of the older patients. In contrast, the 2 patients in Families 6 and 7 exhibited more severe phenotypes, including macular atrophy and visual acuity decline. The combination of p.Val90Leu and c.598+1G>A variants was associated with a milder phenotype, supporting the hypothesis that p.Val90Leu is a hypomorphic variant. These findings expand the clinical and genetic spectra of REEP6-associated retinopathy, particularly among East Asian populations. |
| format | Artículo científico |
| id | pubmed_41553438 |
| institution | PubMed |
| language | en |
| publishDate | 2026 |
| publisher | Japanese journal of ophthalmology |
| record_format | pubmed |
| spellingShingle | Clinical and genetic characterization of REEP6-associated retinopathy in a Japanese cohort. Tsuboi, Takeru Mizobuchi, Kei Yoshitake, Kazutoshi Kuniyoshi, Kazuki Kominami, Taro Ueno, Shinji Nishiguchi, Koji M Kusaka, Shunji Iwata, Takeshi Hayashi, Takaaki Nakano, Tadashi Humans Female Male Retrospective Studies Japan Tomography, Optical Coherence Pedigree Adult Extracellular Matrix Proteins DNA Visual Acuity Phenotype Mutation DNA Mutational Analysis Middle Aged Child Young Adult Electroretinography Exome Sequencing Adolescent Retinal Dystrophies Fluorescein Angiography Fundus Oculi East Asian People Clinical and genetic characterization of REEP6-associated retinopathy in a Japanese cohort. Tsuboi, Takeru Mizobuchi, Kei Yoshitake, Kazutoshi Kuniyoshi, Kazuki Kominami, Taro Ueno, Shinji Nishiguchi, Koji M Kusaka, Shunji Iwata, Takeshi Hayashi, Takaaki Nakano, Tadashi Humans Female Male Retrospective Studies Japan Tomography, Optical Coherence Pedigree Adult Extracellular Matrix Proteins DNA Visual Acuity Phenotype Mutation DNA Mutational Analysis Middle Aged Child Young Adult Electroretinography Exome Sequencing Adolescent Retinal Dystrophies Fluorescein Angiography Fundus Oculi East Asian People To characterize the clinical and genetic features of REEP6-associated retinopathy in 8 Japanese patients from 7 families STUDY DESIGN: Retrospective, multicenter cohort study METHODS: Biallelic REEP6 variants were identified by use of whole-exome sequencing in patients with inherited retinal dystrophy (IRD). Comprehensive ophthalmic assessments were performed in all the patients. Among a nationwide cohort of 2011 patients with IRD, 8 patients from 7 families were found to carry biallelic REEP6 variants. Four distinct variants were identified: c.223G>A, p.Glu75Lys; c.268G>C, p.Val90Leu; c.280_281del, p.Leu94ValfsTer86 (novel frameshift), and c.598+1G>A. Five families (Families 1-5) carried the compound heterozygous p.Val90Leu and c.598+1G>A variants. The other two had either homozygous c.598+1G>A (Family 6) or compound heterozygous p.Glu75Lys/p.Leu94ValfsTer86 (Family 7). In Families 1-5, the patients exhibited relatively mild phenotypes with limited to peripheral retinal degeneration in the younger patients and gradual posterior pole involvement in the older patients. Optical coherence tomography revealed well-preserved outer retinal layers at the macula, and good visual acuity was maintained even in some of the older patients. In contrast, the 2 patients in Families 6 and 7 exhibited more severe phenotypes, including macular atrophy and visual acuity decline. The combination of p.Val90Leu and c.598+1G>A variants was associated with a milder phenotype, supporting the hypothesis that p.Val90Leu is a hypomorphic variant. These findings expand the clinical and genetic spectra of REEP6-associated retinopathy, particularly among East Asian populations. |
| title | Clinical and genetic characterization of REEP6-associated retinopathy in a Japanese cohort. |
| topic | Humans Female Male Retrospective Studies Japan Tomography, Optical Coherence Pedigree Adult Extracellular Matrix Proteins DNA Visual Acuity Phenotype Mutation DNA Mutational Analysis Middle Aged Child Young Adult Electroretinography Exome Sequencing Adolescent Retinal Dystrophies Fluorescein Angiography Fundus Oculi East Asian People |
| url | https://pubmed.ncbi.nlm.nih.gov/41553438/ |