Phototoxicity avoidance is a potential therapeutic approach for retinal dystrophy caused by EYS dysfunction. | Phototoxicity avoidance is a potential therapeutic approach for retinal dystrophy caused by EYS dysfunction. Otsuka Y, Imamura K, Oishi A, Asakawa K, Kondo T, Nakai R, Suga M, Inoue I, Sagara Y, Tsukita K, Teranaka K, Nishimura Y, Watanabe A, Umeyama K, Okushima N, Mitani K, Nagashima H, Kawakami K, Muguruma K, Tsujikawa A, Inoue H., Free PMC Article | 05/7/2024 |
RETINITIS PIGMENTOSA ASSOCIATED WITH THE EYS C2139Y VARIANT : An Important Cause of Blindness in East Asian Populations. | RETINITIS PIGMENTOSA ASSOCIATED WITH THE EYS C2139Y VARIANT : An Important Cause of Blindness in East Asian Populations. Chan CM, Tan TE, Jain K, Bylstra Y, Mathur RS, Tang RWC, Lee BJH, Jamuar SS, Kam S, Vithana EN, Lim WK, Fenner BJ. | 09/29/2023 |
Genotypic and phenotypic profiles of EYS gene-related retinitis pigmentosa: a retrospective study. | Genotypic and phenotypic profiles of EYS gene-related retinitis pigmentosa: a retrospective study. Suvannaboon R, Pawestri AR, Jinda W, Tuekprakhon A, Trinavarat A, Atchaneeyasakul LO., Free PMC Article | 12/24/2022 |
Likely pathogenic structural variants in genetically unsolved patients with retinitis pigmentosa revealed by long-read sequencing. | Likely pathogenic structural variants in genetically unsolved patients with retinitis pigmentosa revealed by long-read sequencing. Sano Y, Koyanagi Y, Wong JH, Murakami Y, Fujiwara K, Endo M, Aoi T, Hashimoto K, Nakazawa T, Wada Y, Ueno S, Gao D, Murakami A, Hotta Y, Ikeda Y, Nishiguchi KM, Momozawa Y, Sonoda KH, Akiyama M, Fujimoto A., Free PMC Article | 10/29/2022 |
Genotypic spectrum and phenotype correlations of EYS-associated disease in a Chinese cohort. | Genotypic spectrum and phenotype correlations of EYS-associated disease in a Chinese cohort. Gao FJ, Wang DD, Hu FY, Xu P, Chang Q, Li JK, Liu W, Zhang SH, Xu GZ, Wu JH., Free PMC Article | 10/29/2022 |
Investigation of genotype-phenotype relationship in Turkish patients with inherited retinal disease by next generation sequencing. | Investigation of genotype-phenotype relationship in Turkish patients with inherited retinal disease by next generation sequencing. Duzkale N, Arslan U. | 02/5/2022 |
EYS mutations and implementation of minigene assay for variant classification in EYS-associated retinitis pigmentosa in northern Sweden. | EYS mutations and implementation of minigene assay for variant classification in EYS-associated retinitis pigmentosa in northern Sweden. Westin IM, Jonsson F, Österman L, Holmberg M, Burstedt M, Golovleva I., Free PMC Article | 11/13/2021 |
A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa. | A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa. Nishiguchi KM, Miya F, Mori Y, Fujita K, Akiyama M, Kamatani T, Koyanagi Y, Sato K, Takigawa T, Ueno S, Tsugita M, Kunikata H, Cisarova K, Nishino J, Murakami A, Abe T, Momozawa Y, Terasaki H, Wada Y, Sonoda KH, Rivolta C, Tsunoda T, Tsujikawa M, Ikeda Y, Nakazawa T., Free PMC Article | 08/14/2021 |
""Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS"". | "Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS". Cundy O, Broadgate S, Halford S, MacLaren RE, Shanks ME, Clouston P, Gilhooley MJ, Downes SM., Free PMC Article | 07/17/2021 |
Identification of Novel EYS Mutations by Targeted Sequencing Analysis. | Identification of Novel EYS Mutations by Targeted Sequencing Analysis. Tian W, Li X, Li Y, Wang L, Yang Y, Sun K, Liu W, Zhou B, Lei B, Zhu X. | 06/26/2021 |
EYS is a major gene involved in retinitis pigmentosa in Japan: genetic landscapes revealed by stepwise genetic screening. | EYS is a major gene involved in retinitis pigmentosa in Japan: genetic landscapes revealed by stepwise genetic screening. Numa S, Oishi A, Higasa K, Oishi M, Miyata M, Hasegawa T, Ikeda HO, Otsuka Y, Matsuda F, Tsujikawa A., Free PMC Article | 04/13/2021 |
Genetic and clinical analysis in Chinese patients with retinitis pigmentosa caused by EYS mutations. | Genetic and clinical analysis in Chinese patients with retinitis pigmentosa caused by EYS mutations. Sun Y, Li JK, He W, Wang ZS, Bai JY, Xu L, Xing B, Zhang JG, Wang L, Li W, Chen F., Free PMC Article | 04/3/2021 |
Novel compound heterozygous EYS variants may be associated with arRP in a large Chinese pedigree. | Novel compound heterozygous EYS variants may be associated with arRP in a large Chinese pedigree. Wei C, Xiao T, Cheng J, Fu J, Zhou Q, Yang L, Lv H, Fu J., Free PMC Article | 04/3/2021 |
Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency. | Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency. Yang L, Fujinami K, Ueno S, Kuniyoshi K, Hayashi T, Kondo M, Mizota A, Naoi N, Shinoda K, Kameya S, Fujinami-Yokokawa Y, Liu X, Arno G, Pontikos N, Kominami T, Terasaki H, Sakuramoto H, Katagiri S, Mizobuchi K, Nakamura N, Mawatari G, Kurihara T, Tsubota K, Miyake Y, Yoshitake K, Iwata T, Tsunoda K, JEGC study group., Free PMC Article | 12/5/2020 |
These results suggest that EYS polymorphism may be associated with lumbar disc herniation among Han Chinese population. It also opens up a new exploration direction for the etiology of lumbar disc herniation. | Correlation of EYS polymorphisms with lumbar disc herniation risk among Han Chinese population. Ji D, Xing W, Li F, Huang Z, Zheng W, Hu B, Niu F, Zhu Y, Yang X., Free PMC Article | 06/20/2020 |
This is the first report showing the pathogenicity of three missense variants (p.(Gly843Glu), p.(Gly2186Glu), and p.(Ile2188Thr)) and the presence of copy number variations in the EYS gene. | Five major sequence variants and copy number variants in the EYS gene account for one-third of Japanese patients with autosomal recessive and simplex retinitis pigmentosa. Iwanami M, Oishi A, Ogino K, Seko Y, Nishida-Shimizu T, Yoshimura N, Kato S., Free PMC Article | 06/20/2020 |
Identical EYS variants were found in cases with RP, CRD, and macular dystrophy. Screening for EYS variants in CRD and macular dystrophy patients might increase the diagnostic yield in previously unsolved cases | Extending the Spectrum of EYS-Associated Retinal Disease to Macular Dystrophy. Pierrache LHM, Messchaert M, Thiadens AAHJ, Haer-Wigman L, de Jong-Hesse Y, van Zelst-Stams WAG, Collin RWJ, Klaver CCW, van den Born LI. | 10/12/2019 |
EYS-RP is a heterogeneous manifestation. Variants occurring in positions closer to the C-terminus of EYS are more common in patients presenting with hyperautofluorescent (hyperAF) rings on fundus autofluorescence imaging. | A Distinct Phenotype of Eyes Shut Homolog (EYS)-Retinitis Pigmentosa Is Associated With Variants Near the C-Terminus. Sengillo JD, Lee W, Nagasaki T, Schuerch K, Yannuzzi LA, Freund KB, Sparrow JR, Allikmets R, Tsang SH., Free PMC Article | 07/6/2019 |
The study identified eight novel EYS variants and expanded the spectrum of EYS mutations in Chinese retinitis pigmentosa patients. | Whole exome sequencing reveals novel EYS mutations in Chinese patients with autosomal recessive retinitis pigmentosa. Xiao X, Cao Y, Chen S, Chen M, Mai X, Zheng Y, Zhuang X, Ng TK, Chen H., Free PMC Article | 06/15/2019 |
EYS mutation is associated with retinitis pigmentosa. | Fundus phenotype in retinitis pigmentosa associated with EYS mutations. Mucciolo DP, Sodi A, Passerini I, Murro V, Cipollini F, Borg I, Pelo E, Contini E, Virgili G, Rizzo S. | 04/13/2019 |
The manner of decay of genetically defective EYS gene transcripts in photoreceptor-directed fibroblasts derived from retinitis pigmentosa patients depends on the type of mutation. | The manner of decay of genetically defective EYS gene transcripts in photoreceptor-directed fibroblasts derived from retinitis pigmentosa patients depends on the type of mutation. Seko Y, Iwanami M, Miyamoto-Matsui K, Takita S, Aoi N, Umezawa A, Kato S., Free PMC Article | 03/16/2019 |
Of the 297 unique EYS variants identified, almost half (n = 130) are predicted to result in premature truncation of the EYS protein. | EYS mutation update: In silico assessment of 271 reported and 26 novel variants in patients with retinitis pigmentosa. Messchaert M, Haer-Wigman L, Khan MI, Cremers FPM, Collin RWJ. | 01/12/2019 |
A novel single base pair insertion mutation has been found in the EYS gene in a six generations family with retinitis pigmentosa. | Whole exome sequencing identified a novel single base pair insertion mutation in the EYS gene in a six generation family with retinitis pigmentosa. Hashmi JA, Albarry MA, Almatrafi AM, Albalawi AM, Mahmood A, Basit S. | 09/1/2018 |
Taken together, with the targeted NGS approach, we reveal novel EYS mutations and prove the efficiency of targeted NGS in the genetic diagnoses of retinitis pigmentosa. | Targeted next-generation sequencing extends the phenotypic and mutational spectrums for EYS mutations. Gu S, Tian Y, Chen X, Zhao C., Free PMC Article | 01/20/2018 |
Bietti crystalline dystrophy patients with CYP4V2 mutations showed more severe macular choroid atrophy as compared to EYS-related RP patients. These different damage patterns suggest differences in choroidal expression between CYP4V2 and EYS. | CHOROIDAL AND RETINAL ATROPHY OF BIETTI CRYSTALLINE DYSTROPHY PATIENTS WITH CYP4V2 MUTATIONS COMPARED TO RETINITIS PIGMENTOSA PATIENTS WITH EYS MUTATIONS. Miyata M, Hata M, Ooto S, Ogino K, Gotoh N, Morooka S, Hasegawa T, Hirashima T, Sugahara M, Kuroda Y, Yamashiro K, Yoshimura N. | 01/13/2018 |