Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Edit custom filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2016 4
2017 4
2018 6
2019 9
2020 3
2021 5
2022 4
2023 6
2024 4
2025 3
2026 2

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

49 results

Results by year

Filters applied: . Clear all
Page 1
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients.
Koyanagi Y, Akiyama M, Nishiguchi KM, Momozawa Y, Kamatani Y, Takata S, Inai C, Iwasaki Y, Kumano M, Murakami Y, Omodaka K, Abe T, Komori S, Gao D, Hirakata T, Kurata K, Hosono K, Ueno S, Hotta Y, Murakami A, Terasaki H, Wada Y, Nakazawa T, Ishibashi T, Ikeda Y, Kubo M, Sonoda KH. Koyanagi Y, et al. J Med Genet. 2019 Oct;56(10):662-670. doi: 10.1136/jmedgenet-2018-105691. Epub 2019 Jun 17. J Med Genet. 2019. PMID: 31213501
(Gly2186Glu) in EYS and p.(Ile535Asn) in PDE6B] and p.(Cys934Trp) in USH2A were found in 10 patients. Among autosomal dominant genes, four pathogenic variants [p....
(Gly2186Glu) in EYS and p.(Ile535Asn) in PDE6B] and p.(Cys934Trp) in USH2A were found in 10 patients. Among autosomal dominant genes …
Comprehensive Molecular Screening in Chinese Usher Syndrome Patients.
Sun T, Xu K, Ren Y, Xie Y, Zhang X, Tian L, Li Y. Sun T, et al. Invest Ophthalmol Vis Sci. 2018 Mar 1;59(3):1229-1237. doi: 10.1167/iovs.17-23312. Invest Ophthalmol Vis Sci. 2018. PMID: 29625443
Overall, 132 distinct disease-causing mutations involving seven USH (ABHD12, CDH23, GPR98, MYO7A, PCDH15, USH1C, and USH2A) genes; 5 other retinal degeneration genes (CHM, CNGA1, EYS, PDE6B, and TULP1); and 1 nonsyndromic hearing loss gene (MYO15A) were identified, and 78 …
Overall, 132 distinct disease-causing mutations involving seven USH (ABHD12, CDH23, GPR98, MYO7A, PCDH15, USH1C, and USH2A) genes; 5 other r …
Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort.
Kim YJ, Kim YN, Yoon YH, Seo EJ, Seo GH, Keum C, Lee BH, Lee JY. Kim YJ, et al. Genes (Basel). 2021 Apr 30;12(5):675. doi: 10.3390/genes12050675. Genes (Basel). 2021. PMID: 33946315 Free PMC article.
The most common causative genes were EYS (8.2%), USH2A (6.8%), and PDE6B (4.7%), but mutations were dispersed among the 51 RP/IRD genes generally. Meanwhile, the PDE6B mutation was the most common in patients experiencing initial symptoms in their first decade, EYS …
The most common causative genes were EYS (8.2%), USH2A (6.8%), and PDE6B (4.7%), but mutations were dispersed among the 51 RP/IRD gen …
In vivo prime editing rescues photoreceptor degeneration in nonsense mutant retinitis pigmentosa.
Fu Y, He X, Ma L, Gao XD, Liu P, Shi H, Chai P, Ge S, Jia R, Liu DR, Fan X, Yang Z. Fu Y, et al. Nat Commun. 2025 Mar 10;16(1):2394. doi: 10.1038/s41467-025-57628-6. Nat Commun. 2025. PMID: 40064881 Free PMC article.
Herein, a PE system is designed to target the PDE6B Y347X mutation in the rd1 mouse strain, a preclinical RP model. We screen and develop the PE system with epegRNA and RT(deltaRnH), which is delivered via dual-AAV in vivo with an editing efficiency of 26.47 13.35%, with …
Herein, a PE system is designed to target the PDE6B Y347X mutation in the rd1 mouse strain, a preclinical RP model. We screen and dev …
dCasMINI-mediated therapy rescues photoreceptors degeneration in a mouse model of retinitis pigmentosa.
Wang Q, Xu X, Chen S, Lu R, Li L, Lo CH, Liu Z, Ning K, Li T, Kowal TJ, Wang B, Hartnett ME, Wang S, Qi LS, Sun Y. Wang Q, et al. Sci Adv. 2024 Dec 20;10(51):eadn7540. doi: 10.1126/sciadv.adn7540. Epub 2024 Dec 18. Sci Adv. 2024. PMID: 39693439 Free PMC article.
Here, we utilized a single adeno-associated virus (AAV)-based CRISPR activation system to activate phosphodiesterase 6B (Pde6b) to mitigate the severe degeneration in Pde6a(nmf363) mice. We demonstrate that transcriptional activation of Pde6b can rescue the loss of …
Here, we utilized a single adeno-associated virus (AAV)-based CRISPR activation system to activate phosphodiesterase 6B (Pde6b) to mi …
Phenotypic and Genetic Spectrum in 309 Consecutive Pediatric Patients with Inherited Retinal Disease.
Priglinger CS, Gerhardt MJ, Priglinger SG, Schaumberger M, Neuhann TM, Bolz HJ, Mehraein Y, Rudolph G. Priglinger CS, et al. Int J Mol Sci. 2024 Nov 14;25(22):12259. doi: 10.3390/ijms252212259. Int J Mol Sci. 2024. PMID: 39596324 Free PMC article.
At schoolage, 41% were attributed to cone-dominated disease (34% ABCA4), 10.3% to BEST1, and 10.3% to RCDs (RP2, PRPF3, RPGR; IMPG2, PDE6B, CNGA1, MFRP, RP1). Ciliopathies were the most common syndromic IRDs (preschool 37%; schoolchildren 45.1%), with variants in USH2A, CE …
At schoolage, 41% were attributed to cone-dominated disease (34% ABCA4), 10.3% to BEST1, and 10.3% to RCDs (RP2, PRPF3, RPGR; IMPG2, PDE6 …
Genetics, Clinical Characteristics, and Natural History of PDE6B-Associated Retinal Dystrophy.
Hashem SA, Georgiou M, Fujinami-Yokokawa Y, Laich Y, Daich Varela M, de Guimaraes TAC, Ali N, Mahroo OA, Webster AR, Fujinami K, Michaelides M. Hashem SA, et al. Am J Ophthalmol. 2024 Jul;263:1-10. doi: 10.1016/j.ajo.2024.02.005. Epub 2024 Feb 15. Am J Ophthalmol. 2024. PMID: 38364953 Free article.
PURPOSE: To analyze the clinical characteristics, natural history, and genetics of PDE6B-associated retinal dystrophy. DESIGN: Retrospective, observational cohort study. ...Genetic analysis identified 43 variants in the PDE6B gene, including 16 novel variants. CONCL …
PURPOSE: To analyze the clinical characteristics, natural history, and genetics of PDE6B-associated retinal dystrophy. DESIGN: Retros …
Subretinal delivery of AAV5-mediated human Pde6b gene ameliorates the disease phenotype in a rat model of retinitis pigmentosa.
Kim HJ, Kwak JH, Choi JS, Kim J, Moon SY, Lee SHS, Lee H, Park K, Lee JY, Won SY. Kim HJ, et al. Mol Vis. 2025 Mar 29;31:127-141. eCollection 2025. Mol Vis. 2025. PMID: 40384764 Free PMC article.
Functional analysis of vision by scotopic electroretinogram (ERG) and optokinetic nystagmus revealed that AAV5-Pde6b treatment significantly improved the visual function of Pde6b gene KO rats compared with AAV5-GFP-injected Pde6b KO rats. CONCLUSIONS: Our res …
Functional analysis of vision by scotopic electroretinogram (ERG) and optokinetic nystagmus revealed that AAV5-Pde6b treatment signif …
Inherited retinal dystrophies in a Kuwaiti tribe.
Pandova MG, Abduljalil T, Elshafey AE, Abdelmoaty SMA, Albastawisy HI, Bastaki LA, Alsaleh H, Kozak I, AlMerjan JI. Pandova MG, et al. Ophthalmic Genet. 2022 Aug;43(4):438-445. doi: 10.1080/13816810.2022.2045509. Epub 2022 Mar 10. Ophthalmic Genet. 2022. PMID: 35272565
RESULTS: Seventeen patients were diagnosed with autosomal recessive retinitis pigmentosa (arRP) associated with RP1 c.606C>A with onset of nictalopia in the third decade, myopia, and macular atrophy by the age of 50; eleven with autosomal recessive cone/rod dystrophy or macula …
RESULTS: Seventeen patients were diagnosed with autosomal recessive retinitis pigmentosa (arRP) associated with RP1 c.606C>A with onset o …
Novel variants in PDE6A and PDE6B genes and its phenotypes in patients with retinitis pigmentosa in Chinese families.
Li Y, Li R, Dai H, Li G. Li Y, et al. BMC Ophthalmol. 2022 Jan 15;22(1):27. doi: 10.1186/s12886-021-02242-5. BMC Ophthalmol. 2022. PMID: 35033039 Free PMC article.
The purpose of this study is to identify novel variants in PDE6A and PDE6B genes and present its phenotypes in patients with retinitis pigmentosa in Chinese families. ...CONCLUSIONS: This study reveals novel and known variants in PDE6A and PDE6B genes in Chinese fam …
The purpose of this study is to identify novel variants in PDE6A and PDE6B genes and present its phenotypes in patients with retiniti …
49 results