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Items: 1 to 20 of 84

1.
PHYH c.678+5G>T Leads to In-Frame Exon Skipping and Is Associated With Attenuated Refsum Disease
Malena Daich Varela, Elena Schiff, Samantha Malka, Genevieve Wright, Omar A. Mahroo, Andrew R. Webster, Michel Michaelides, Gavin Arno
Invest Ophthalmol Vis Sci. 2024 Feb; 65(2): 38. Published online 2024 Feb 27. doi: 10.1167/iovs.65.2.38
PMCID:
PMC10910431
AbstractArticlePDF–695K
2.
Foveal Hypoplasia in CRB1-Related Retinopathies
Ana Catalina Rodriguez-Martinez, Bethany Elora Higgins, Vijay Tailor-Hamblin, Samantha Malka, Riccardo Cheloni, Alexander Mark Collins, John Bladen, Robert Henderson, Mariya Moosajee
Int J Mol Sci. 2023 Sep; 24(18): 13932. Published online 2023 Sep 11. doi: 10.3390/ijms241813932
PMCID:
PMC10531165
AbstractArticlePDF–1.4M
3.
A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing
Maria Areblom, Sten Kjellström, Sten Andréasson, Anders Öhberg, Lotta Gränse, Ulrika Kjellström
Genes (Basel) 2023 Jul; 14(7): 1413. Published online 2023 Jul 8. doi: 10.3390/genes14071413
PMCID:
PMC10379620
AbstractArticlePDF–744K
4.
NOTCH2NLC GGC repeat expansion causes retinal pathology with intranuclear inclusions throughout the retina and causes visual impairment
Jun Sone, Shinji Ueno, Akio Akagi, Hiroaki Miyahara, Chisato Tamai, Yuichi Riku, Hiroyuki Yabata, Ryuichi Koizumi, Tomohiro Hattori, Hiroshi Hirose, Yoshito Koyanagi, Rei Kobayashi, Hisashi Okada, Yoshiyuki Kishimoto, Yoshio Hashizume, Gen Sobue, Mari Yoshida, Yasushi Iwasaki
Acta Neuropathol Commun. 2023; 11: 71. Published online 2023 May 2. doi: 10.1186/s40478-023-01564-3
PMCID:
PMC10152767
AbstractArticlePDF–2.3M
5.
Identifying and Overcoming Challenges in Developing Effective Treatments for Usher 1B: A Workshop Report
Shannon E. Boye, Todd Durham, Amy Laster, Claire M. Gelfman, José-Alain Sahel
Transl Vis Sci Technol. 2023 Feb; 12(2): 2. Published online 2023 Feb 1. doi: 10.1167/tvst.12.2.2
PMCID:
PMC9904327
AbstractArticlePDF–294K
6.
Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study
Kristoffer Björkman, John Vissing, Elsebet Østergaard, Laurence A Bindoff, Irenaeus F M de Coo, Martin Engvall, Omar Hikmat, Pirjo Isohanni, Gittan Kollberg, Christopher Lindberg, Kari Majamaa, Karin Naess, Johanna Uusimaa, Mar Tulinius, Niklas Darin
J Med Genet. 2023 Jan; 60(1): 65–73. Published online 2021 Dec 6. doi: 10.1136/jmedgenet-2021-108006
PMCID:
PMC9811091
AbstractArticlePDF–376K
7.
Quantitative and Qualitative Characterization of Retinal Dystrophies in Canine Models of Inherited Retinal Diseases Using Spectral Domain Optical Coherence Tomography (SD-OCT)
Shin Ae Park, Jamie Rhodes, Simone Iwabe, Gui-Shuang Ying, Wei Pan, Jiayan Huang, András M. Komáromy
Exp Eye Res. Author manuscript; available in PMC 2023 Jul 1.
Published in final edited form as: Exp Eye Res. 2022 Jul; 220: 109106. Published online 2022 May 16. doi: 10.1016/j.exer.2022.109106
PMCID:
PMC9789526
AbstractArticlePDF–2.0M
8.
Characterization and Involvement of Exosomes Originating from Chikungunya Virus-Infected Epithelial Cells in the Transmission of Infectious Viral Elements
Bao Chi Thi Le, Ati Burassakarn, Panwad Tongchai, Tipaya Ekalaksananan, Sirinart Aromseree, Supranee Phanthanawiboon, Yada Polsan, Neal Alexander, Hans J. Overgaard, Chamsai Pientong
Int J Mol Sci. 2022 Oct; 23(20): 12117. Published online 2022 Oct 11. doi: 10.3390/ijms232012117
PMCID:
PMC9603488
AbstractArticlePDF–1.3M
9.
Genotypic spectrum and phenotype correlations of EYS-associated disease in a Chinese cohort
Feng-Juan Gao, Dan-Dan Wang, Fang-Yuan Hu, Ping Xu, Qing Chang, Jian-Kang Li, Wei Liu, Sheng-Hai Zhang, Ge-Zhi Xu, Ji-Hong Wu
Eye (Lond) 2022 Nov; 36(11): 2122–2129. Published online 2021 Oct 23. doi: 10.1038/s41433-021-01794-6
PMCID:
PMC9581949
AbstractArticlePDF–1.7M
10.
Retrospective Natural History Study of RPGR-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease
Marco Nassisi, Giuseppe De Bartolo, Saddek Mohand-Said, Christel Condroyer, Aline Antonio, Marie-Elise Lancelot, Kinga Bujakowska, Vasily Smirnov, Thomas Pugliese, John Neidhardt, José-Alain Sahel, Christina Zeitz, Isabelle Audo
Int J Mol Sci. 2022 Jul; 23(13): 7189. Published online 2022 Jun 28. doi: 10.3390/ijms23137189
PMCID:
PMC9266815
AbstractArticlePDF–3.5M
11.
Predicting potentially pathogenic effects of hRPE65 missense mutations: a computational strategy based on molecular dynamics simulations
Giulio Poli, Ivana Barravecchia, Gian Carlo Demontis, Andrea Sodi, Alessandro Saba, Stanislao Rizzo, Marco Macchia, Tiziano Tuccinardi
J Enzyme Inhib Med Chem. 2022; 37(1): 1765–1772. Published online 2022 Jun 21. doi: 10.1080/14756366.2022.2090547
PMCID:
PMC9225791
AbstractArticlePDF–2.2M
12.
Autosomal Dominant Retinitis Pigmentosa–Associated TOPORS Protein Truncating Variants Are Exclusively Located in the Region of Amino Acid Residues 807 to 867
Junwen Wang, Yingwei Wang, Yi Jiang, Xueqing Li, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Wenmin Sun, Panfeng Wang, Qingjiong Zhang
Invest Ophthalmol Vis Sci. 2022 May; 63(5): 19. Published online 2022 May 17. doi: 10.1167/iovs.63.5.19
PMCID:
PMC9123486
AbstractArticlePDF–1.3M
13.
The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification
Sedigheh Delmaghani, Aziz El-Amraoui
Hum Genet. 2022; 141(3-4): 709–735. Published online 2022 Mar 30. doi: 10.1007/s00439-022-02448-7
PMCID:
PMC9034986
AbstractArticlePDF–3.6M
14.
Evaluation of photoreceptor-directed fibroblasts derived from retinitis pigmentosa patients with defects in the EYS gene: a possible cost-effective cellular model for mechanism-oriented drug
Dilip Rai, Masaki Iwanami, Yoriko Takahashi, Yukari Komuta, Noriyuki Aoi, Akihiro Umezawa, Yuko Seko
Stem Cell Res Ther. 2022; 13: 157. Published online 2022 Apr 11. doi: 10.1186/s13287-022-02827-x
PMCID:
PMC8996485
AbstractArticlePDF–1.4M
15.
Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review
Juliana M. F. Sallum, Vinay Preet Kaur, Javed Shaikh, Judit Banhazi, Claudio Spera, Celia Aouadj, Daniel Viriato, M. Dominik Fischer
Adv Ther. 2022; 39(3): 1179–1198. Published online 2022 Jan 30. doi: 10.1007/s12325-021-02036-7
PMCID:
PMC8918161
AbstractArticlePDF–1.1M
16.
New insights into the molecular mechanism of rhodopsin retinitis pigmentosa from the biochemical and functional characterization of G90V, Y102H and I307N mutations
María Guadalupe Herrera-Hernández, Neda Razzaghi, Pol Fernandez-Gonzalez, Laia Bosch-Presegué, Guillem Vila-Julià, Juan Jesús Pérez, Pere Garriga
Cell Mol Life Sci. 2022 Jan; 79(1): 58. Published online 2022 Jan 7. doi: 10.1007/s00018-021-04086-0
PMCID:
PMC8741697
AbstractArticlePDF–1.5M
17.
Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a TCF4 Trinucleotide Repeat, Commonly Associated with Fuchs Endothelial Corneal Dystrophy?
Lubica Dudakova, Pavlina Skalicka, Alice E. Davidson, Amanda N. Sadan, Monika Chylova, Helena Jahnova, Nicole Anteneova, Marketa Tesarova, Tomas Honzik, Petra Liskova
Genes (Basel) 2021 Dec; 12(12): 1918. Published online 2021 Nov 29. doi: 10.3390/genes12121918
PMCID:
PMC8702069
AbstractArticlePDF–682K
18.
Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy
Christina Zeitz, Cécile Méjécase, Christelle Michiels, Christel Condroyer, Juliette Wohlschlegel, Marine Foussard, Aline Antonio, Vanessa Démontant, Lisa Emmenegger, Audrey Schalk, Marion Neuillé, Elise Orhan, Sébastien Augustin, Crystel Bonnet, Amrit Estivalet, Frédéric Blond, Steven Blanchard, Camille Andrieu, Sandra Chantot-Bastaraud, Thierry Léveillard, Saddek Mohand-Saïd, José-Alain Sahel, Isabelle Audo
Int J Mol Sci. 2021 Aug; 22(15): 7875. Published online 2021 Jul 23. doi: 10.3390/ijms22157875
PMCID:
PMC8346125
AbstractArticlePDF–3.2M
19.
Inherited retinal diseases are the most common cause of blindness in the working-age population in Australia
Rachael C. Heath Jeffery, Syed Aqif Mukhtar, Ian L. McAllister, William H. Morgan, David A. Mackey, Fred K. Chen
Ophthalmic Genet. 2021; 42(4): 431–439. Published online 2021 May 3. doi: 10.1080/13816810.2021.1913610
Correction in:
Ophthalmic Genet. 2021; 42(6): 790.
PMCID:
PMC8315212
AbstractArticlePDF–3.2M
20.
Optical Gap Biomarker in Cone-Dominant Retinal Dystrophy
Jin Kyun Oh, Joseph Ryu, Jose Ronaldo Lima de Carvalho, Jr, Sarah R. Levi, Winston Lee, Emmanouil Tsamis, Vivienne C. Greenstein, Vinit B. Mahajan, Rando Allikmets, Stephen H. Tsang
Am J Ophthalmol. Author manuscript; available in PMC 2021 Oct 1.
Published in final edited form as: Am J Ophthalmol. 2020 Oct; 218: 40–53. Published online 2020 May 21. doi: 10.1016/j.ajo.2020.05.016
PMCID:
PMC8291221
AbstractArticlePDF–1.8M

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