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Select item 117028251.

Deep Learning–Based SD-OCT Layer Segmentation Quantifies Outer Retina Changes in Patients With Biallelic RPE65 Mutations Undergoing Gene Therapy

German Pinedo-Diaz, Birgit Lorenz, Sandrine H. Künzel, Sarah Thiele, Susana Ortega-Cisneros, Eduardo Bayro Corrochano, Frank G. Holz, Alexander Effland

Invest Ophthalmol Vis Sci. 2025 Jan; 66(1): 5. Published online 2025 Jan 2. doi: 10.1167/iovs.66.1.5

PMCID:: PMC11702825

Abstract Article PDF–4.7M

Select item 116547732.

Inherited Retinal Degenerations and Non-Neovascular Age-Related Macular Degeneration: Progress and Unmet Needs

Jacque L. Duncan, Angela Bowman, Amy Laster, Claire Gelfman, David G. Birch, Shannon E. Boye, Stephen P. Daiger, Lucian del Priore, Donald J. Zack, James T. Handa, the Foundation Fighting Blindness Scientific Advisory Board

Transl Vis Sci Technol. 2024 Dec; 13(12): 28. Published online 2024 Dec 17. doi: 10.1167/tvst.13.12.28

PMCID:: PMC11654773

Abstract Article PDF–441K

Select item 116473343.

Screening of Inherited Retinal Disease Patients in a Low‐Resource Setting Using an Augmented Next‐Generation Sequencing Panel

Nicole Midgley, George Rebello, Lara K. Holtes, Raj Ramesar, Lisa Roberts

Mol Genet Genomic Med. 2024 Dec; 12(12): e70046. Published online 2024 Dec 16. doi: 10.1002/mgg3.70046

PMCID:: PMC11647334

Abstract Article PDF–1.0M

Select item 116388354.

Dual CRALBP isoforms unveiled: iPSC-derived retinal modeling and AAV2/5-RLBP1 gene transfer raise considerations for effective therapy

Krishna Damodar, Gregor Dubois, Laurent Guillou, Daria Mamaeva, Marie Pequignot, Nejla Erkilic, Carla Sanjurjo-Soriano, Hassan Boukhaddaoui, Florence Bernex, Béatrice Bocquet, Jérôme Vialaret, Yvan Arsenijevic, T. Michael Redmond, Christopher Hirtz, Isabelle Meunier, Philippe Brabet, Vasiliki Kalatzis

Mol Ther. 2024 Dec 4; 32(12): 4319–4336. Published online 2024 Oct 9. doi: 10.1016/j.ymthe.2024.10.004

PMCID:: PMC11638835

Abstract Article PDF–5.5M

Select item 116299145.

Patient-Reported Experience Measurements From Individuals With Inherited Retinal Disorders Involved in Observational Research

Malena Daich Varela, Shaima Hashem, Dayyanah Sumodhee, Michel Michaelides

Transl Vis Sci Technol. 2024 Dec; 13(12): 9. Published online 2024 Dec 6. doi: 10.1167/tvst.13.12.9

PMCID:: PMC11629914

Abstract Article PDF–1.1M

Select item 116029846.

Retinal Proteome Profiling of Inherited Retinal Degeneration Across Three Different Mouse Models Suggests Common Drug Targets in Retinitis Pigmentosa

Ahmed B. Montaser, Fangyuan Gao, Danielle Peters, Katri Vainionpää, Ning Zhibin, Dorota Skowronska-Krawczyk, Daniel Figeys, Krzysztof Palczewski, Henri Leinonen

Mol Cell Proteomics. 2024 Nov; 23(11): 100855. Published online 2024 Oct 9. doi: 10.1016/j.mcpro.2024.100855

PMCID:: PMC11602984

Abstract Article PDF–2.3M

Select item 115950897.

Phenotypic and Genetic Spectrum in 309 Consecutive Pediatric Patients with Inherited Retinal Disease

Claudia S. Priglinger, Maximilian J. Gerhardt, Siegfried G. Priglinger, Markus Schaumberger, Teresa M. Neuhann, Hanno J. Bolz, Yasmin Mehraein, Guenther Rudolph

Int J Mol Sci. 2024 Nov; 25(22): 12259. Published online 2024 Nov 14. doi: 10.3390/ijms252212259

PMCID:: PMC11595089

Abstract Article PDF–1.5M

Select item 115950718.

A Comparative Evaluation of the Genetic Variant Spectrum in the USH2A Gene in Russian Patients with Isolated and Syndromic Forms of Retinitis Pigmentosa

Natalya Ogorodova, Anna Stepanova, Vitaly Kadyshev, Svetlana Kuznetsova, Olga Ismagilova, Alena Chukhrova, Aleksandr Polyakov, Sergey Kutsev, Olga Shchagina

Int J Mol Sci. 2024 Nov; 25(22): 12169. Published online 2024 Nov 13. doi: 10.3390/ijms252212169

PMCID:: PMC11595071

Abstract Article PDF–1.3M

Select item 115423239.

Inherited retinal dystrophies and orphan designations in the European Union

Jane Moseley, Tim Leest, Kristina Larsson, Armando Magrelli, Violeta Stoyanova-Beninska

Eur J Ophthalmol. 2024 Nov; 34(6): 1631–1641. Published online 2024 Mar 18. doi: 10.1177/11206721241236214

PMCID:: PMC11542323

Abstract Article PDF–1.1M

Select item 1154092510.

A new mouse model for PRPH2 pattern dystrophy exhibits functional compensation prior and subsequent to retinal degeneration

Breyanna L Cavanaugh, Michelle L Milstein, R Casey Boucher, Sharon X Tan, Mario W Hanna, Adam Seidel, Rikard Frederiksen, Thomas L Saunders, Alapakkam P Sampath, Kenneth P Mitton, Dao-Qi Zhang, Andrew F X Goldberg

Hum Mol Genet. 2024 Nov 1; 33(21): 1916–1928. Published online 2024 Sep 5. doi: 10.1093/hmg/ddae128

PMCID:: PMC11540925

Abstract Article PDF–1.9M

Select item 1153012311.

Targeted long-read sequencing enriches disease-relevant genomic regions of interest to provide complete Mendelian disease diagnostics

Kenji Nakamichi, Jennifer Huey, Riccardo Sangermano, Emily M. Place, Kinga M. Bujakowska, Molly Marra, Lesley A. Everett, Paul Yang, Jennifer R. Chao, Russell N. Van Gelder, Debarshi Mustafi

JCI Insight. 2024 Oct 22; 9(20): e183902. Published online 2024 Sep 12. doi: 10.1172/jci.insight.183902

PMCID:: PMC11530123

Abstract Article PDF–5.0M

Select item 1151421212.

Phenotypic variability of RP1-related inherited retinal dystrophy associated with the c.5797 C > T (p.Arg1933*) variant in the Japanese population

Keigo Natsume, Taro Kominami, Kensuke Goto, Yoshito Koyanagi, Taiga Inooka, Junya Ota, Kenichi Kawano, Kazuhisa Yamada, Daishi Okuda, Kenya Yuki, Koji M. Nishiguchi, Hiroaki Ushida

Sci Rep. 2024; 14: 25669. Published online 2024 Oct 27. doi: 10.1038/s41598-024-77441-3

PMCID:: PMC11514212

Abstract Article PDF–2.1M

Select item 1151394313.

18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies

Christina Kiel, Fabiola Biasella, Heidi Stöhr, Philipp Rating, Georg Spital, Ulrich Kellner, Karsten Hufendiek, Cord Huchzermeyer, Herbert Jaegle, Klaus Ruether, Bernhard H. F. Weber

Sci Rep. 2024; 14: 25529. Published online 2024 Oct 26. doi: 10.1038/s41598-024-77014-4

PMCID:: PMC11513943

Abstract Article PDF–2.8M

Select item 1150268314.

Identification of diagnostic challenges in RP1 Alu insertion and strategies for overcoming them

Mi-Ae Jang, Jong Kwon Lee, Jong-Ho Park, Sungsoon Hwang, Young-gon Kim, Jong-Won Kim, Youn-Ji Hong, Sang Jin Kim, Ja-Hyun Jang

Sci Rep. 2024; 14: 25119. Published online 2024 Oct 24. doi: 10.1038/s41598-024-76509-4

PMCID:: PMC11502683

Abstract Article PDF–1.6M

Select item 1146919315.

Current and Future Directions in Developing Effective Treatments for PRPH2-Associated Retinal Diseases: A Workshop Report

Radha Ayyagari, Shyamanga Borooah, Todd Durham, Claire Gelfman, Angela Bowman

Transl Vis Sci Technol. 2024 Oct; 13(10): 16. Published online 2024 Oct 9. doi: 10.1167/tvst.13.10.16

PMCID:: PMC11469193

Abstract Article PDF–317K

Select item 1145758616.

Avidity sequencing of whole genomes from retinal degeneration pedigrees identifies causal variants

Pooja Biswas, Adda Villanueva, Benjamin J. Krajacich, Juan Moreno, Junhua Zhao, Anne Marie Berry, Danielle Lazaro, Bryan R. Lajoie, Semyon Kruglyak, Radha Ayyagari

PLoS One. 2024; 19(10): e0307266. Published online 2024 Oct 4. doi: 10.1371/journal.pone.0307266

PMCID:: PMC11457586

Abstract Article PDF–1.1M

Select item 1142033017.

Ocular genetics in the Japanese population

Yoshihiro Hotta, Kaoruko Torii, Masakazu Takayama

Jpn J Ophthalmol. 2024; 68(5): 401–418. Published online 2024 Sep 14. doi: 10.1007/s10384-024-01109-8

PMCID:: PMC11420330

Abstract Article PDF–3.7M

Select item 1141094118.

Retinal prolactin isoform PRLΔE1 sustains rod disease in inherited retinal degenerations

Raghavi Sudharsan, Jennifer Kwok, Malgorzata Swider, Alexander Sumaroka, Gustavo D. Aguirre, Artur V. Cideciyan, William A. Beltran

Cell Death Dis. 2024 Sep; 15(9): 682. Published online 2024 Sep 18. doi: 10.1038/s41419-024-07070-1

PMCID:: PMC11410941

Abstract Article PDF–4.2M

Select item 1140184519.

Current management of inherited retinal degenerations in Portugal (IRD-PT survey)

João Pedro Marques, Nuno Ferreira, Natacha Moreno, Ana Marta, Sara Vaz-Pereira, Sérgio Estrela-Silva, José Costa, Ana Rocha Cardoso, Pedro Neves, Lilianne Duarte, Dália Meira, Joana Pires, Carlos Menezes, Filipa Rodrigues, Pedro Arede, André Coutinho, Diogo Cabral, Inês Coutinho, Miguel Ribeiro, Marta Macedo, Sérgio Brito, Filipe Isidro, Filipa Gomes Rodrigues, João Paulo Castro Sousa, Marco Marques, Raquel Martins, Eduardo Silva

Sci Rep. 2024; 14: 21473. Published online 2024 Sep 14. doi: 10.1038/s41598-024-72589-4

PMCID:: PMC11401845

Abstract Article PDF–1.3M

Select item 1140152620.

How Advanced are Nanocarriers for Effective Subretinal Injection?

Jia-Xin Guan, Yan-Ling Wang, Jia-Lin Wang

Int J Nanomedicine. 2024; 19: 9273–9289. Published online 2024 Sep 10. doi: 10.2147/IJN.S479327

PMCID:: PMC11401526

Abstract Article PDF–598K

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