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Select item 116683551.

Retinal Degeneration Associated With Biallelic RDH12 Variants: Longitudinal Evaluation of Retinal Structure and Visual Function in Pediatric Patients

Tomas S. Aleman, Alejandro J. Roman, Katherine E. Uyhazi, Yu You Jiang, Emma C. Bedoukian, Alexander Sumaroka, Vivian Wu, Malgorzata Swider, Iryna Viarbitskaya, Robert C. Russell, Elizabeth O. Shagena, Arlene J. Santos, Leona W. Serrano, Kelsey M. Parchinski, Rebecca J. Kim, Mariejel L. Weber, Alexandra V. Garafalo, Dorothy A. Thompson, Albert M. Maguire, Jean Bennett, Drew H. Scoles, Erin C. O'Neil, Jessica I. W. Morgan, Artur V. Cideciyan

Invest Ophthalmol Vis Sci. 2024 Dec; 65(14): 30. Published online 2024 Dec 18. doi: 10.1167/iovs.65.14.30

PMCID:: PMC11668355

Article PDF–17M

Select item 115950892.

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

Article PDF–1.5M

Select item 113776163.

Clinical and genetic studies for a cohort of patients with Leber congenital amaurosis

Yunyu Zhou, Lijuan Huang, Yan Xie, Wen Liu, Shasha Zhang, Lili Liu, Ping Lin, Ningdong Li

Graefes Arch Clin Exp Ophthalmol. 2024; 262(9): 3029–3038. Published online 2024 Apr 25. doi: 10.1007/s00417-024-06450-9

PMCID:: PMC11377616

Article PDF–2.4M

Select item 111728614.

Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset Severe Retinal Dystrophy in Chile: Diagnostic and Therapeutic Consequences

Rene Moya, Clémentine Angée, Sylvain Hanein, Fabienne Jabot-Hanin, Josseline Kaplan, Isabelle Perrault, Jean-Michel Rozet, Lucas Fares Taie

Int J Mol Sci. 2024 Jun; 25(11): 6151. Published online 2024 Jun 3. doi: 10.3390/ijms25116151

PMCID:: PMC11172861

Article PDF–663K

Select item 111494565.

A novel pathogenic CRB1 variant presenting as Leber Congenital Amaurosis 8 and evaluation of gene editing feasibility

Mohamed M. Sylla, Masha Kolesinkova, Bruna Lopes da Costa, Irene H. Maumenee, Stephen H. Tsang, Peter M. J. Quinn

Doc Ophthalmol. Author manuscript; available in PMC 2024 Jun 4.

Published in final edited form as: Doc Ophthalmol. 2023 Dec; 147(3): 217–224. Published online 2023 Oct 7. doi: 10.1007/s10633-023-09951-w

PMCID:: PMC11149456

Article PDF–1.5M

Select item 111381306.

Classification and growth rate of chorioretinal atrophy after voretigene neparvovec-rzyl for RPE65-mediated retinal degeneration

Nikhil Bommakanti, Benjamin K Young, Robert A Sisk, Audina M Berrocal, Jacque L Duncan, Benjamin Bakall, Marc T Mathias, Ishrat Ahmed, Sarah Chorfi, Jason Comander, Aaron Nagiel, Cagri G Besirli

Ophthalmol Retina. Author manuscript; available in PMC 2025 Jan 1.

Published in final edited form as: Ophthalmol Retina. 2024 Jan; 8(1): 42–48. Published online 2023 Sep 3. doi: 10.1016/j.oret.2023.08.017

PMCID:: PMC11138130

Article PDF–742K

Select item 110789727.

Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypes

Jan-Philipp Bodenbender, Valerio Marino, Julia Philipp, Anke Tropitzsch, Christoph Kernstock, Katarina Stingl, Melanie Kempf, Tobias B. Haack, Theresia Zuleger, Pascale Mazzola, Susanne Kohl, Nicole Weisschuh, Daniele Dell’Orco, Laura Kühlewein

Sci Rep. 2024; 14: 10551. Published online 2024 May 8. doi: 10.1038/s41598-024-61019-0

PMCID:: PMC11078972

Article PDF–2.3M

Select item 109297498.

Adaptive Optics Retinal Imaging in RDH12-Associated Early Onset Severe Retinal Dystrophy

Malena Daich Varela, Mira Dixit, Angelos Kalitzeos, Michel Michaelides

Invest Ophthalmol Vis Sci. 2024 Mar; 65(3): 9. Published online 2024 Mar 11. doi: 10.1167/iovs.65.3.9

PMCID:: PMC10929749

Article PDF–3.8M

Select item 106833069.

Application of patient-derived induced pluripotent stem cells and organoids in inherited retinal diseases

Yuqin Liang, Xihao Sun, Chunwen Duan, Shibo Tang, Jiansu Chen

Stem Cell Res Ther. 2023; 14: 340. Published online 2023 Nov 27. doi: 10.1186/s13287-023-03564-5

PMCID:: PMC10683306

Article PDF–1.4M

Select item 1053116510.

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

Article PDF–1.4M

Select item 1021900511.

Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort

Ditta Zobor, Britta Brühwiler, Eberhart Zrenner, Nicole Weisschuh, Susanne Kohl

Int J Mol Sci. 2023 May; 24(10): 8915. Published online 2023 May 17. doi: 10.3390/ijms24108915

PMCID:: PMC10219005

Article PDF–5.1M

Select item 1021801712.

Genotypic Profile and Clinical Characteristics of CRX-Associated Retinopathy in Koreans

Dong Geun Kim, Kwangsic Joo, Jinu Han, Mihyun Choi, Seong-Woo Kim, Kyu Hyung Park, Sang Jun Park, Christopher Seungkyu Lee, Suk Ho Byeon, Se Joon Woo

Genes (Basel) 2023 May; 14(5): 1057. Published online 2023 May 8. doi: 10.3390/genes14051057

PMCID:: PMC10218017

Article PDF–3.7M

Select item 1013736013.

FDXR-Associated Oculopathy: Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy as Common Presenting Features in a Chinese Population

Shutong Yi, Yuxi Zheng, Zhen Yi, Yingwei Wang, Yi Jiang, Jiamin Ouyang, Shiqiang Li, Xueshan Xiao, Wenmin Sun, Panfeng Wang, Qingjiong Zhang

Genes (Basel) 2023 Apr; 14(4): 952. Published online 2023 Apr 21. doi: 10.3390/genes14040952

PMCID:: PMC10137360

Article PDF–5.4M

Select item 965829814.

A 5′ UTR Mutation Contributes to Down-Regulation of Bbs7 in the Berlin Fat Mouse

Kourosh Mohebian, Deike Hesse, Danny Arends, Gudrun A. Brockmann

Int J Mol Sci. 2022 Nov; 23(21): 13018. Published online 2022 Oct 27. doi: 10.3390/ijms232113018

PMCID:: PMC9658298

Article PDF–881K

Select item 965804015.

Signal Peptide Variants in Inherited Retinal Diseases: A Multi-Institutional Case Series

Hiram J. Jimenez, Rebecca A. Procopio, Tobin B. T. Thuma, Molly H. Marra, Natalio Izquierdo, Michael A. Klufas, Aaron Nagiel, Mark E. Pennesi, Jose S. Pulido

Int J Mol Sci. 2022 Nov; 23(21): 13361. Published online 2022 Nov 1. doi: 10.3390/ijms232113361

PMCID:: PMC9658040

Article PDF–418K

Select item 923985016.

Visual System Hyperexcitability and Compromised V1 Receptive Field Properties in Early-Stage Retinitis Pigmentosa in Mice

Henri Leinonen, David C. Lyon, Krzysztof Palczewski, Andrzej T. Foik

eNeuro. 2022 May-Jun; 9(3): ENEURO.0107-22.2022. Prepublished online 2022 Jun 14. Published online 2022 Jun 23. doi: 10.1523/ENEURO.0107-22.2022

PMCID:: PMC9239850

Article PDF–5.3M

Select item 901035817.

Real-world Outcomes of Voretigene Neparvovec Treatment in Pediatric Patients with RPE65-associated Leber Congenital Amaurosis

Callie Deng, Peter Y. Zhao, Kari Branham, Dana Schlegel, Abigail T. Fahim, K. Thiran Jayasundera, Naheed Khan, Cagri G. Besirli

Graefes Arch Clin Exp Ophthalmol. Author manuscript; available in PMC 2023 May 1.

Published in final edited form as: Graefes Arch Clin Exp Ophthalmol. 2022 May; 260(5): 1543–1550. Published online 2022 Jan 10. doi: 10.1007/s00417-021-05508-2

PMCID:: PMC9010358

Article PDF–176K

Select item 896175018.

Leber congenital amaurosis/early-onset severe retinal dystrophy: current management and clinical trials

Malena Daich Varela, Thales Antonio Cabral de Guimaraes, Michalis Georgiou, Michel Michaelides

Br J Ophthalmol. 2022 Apr; 106(4): 445–451. Published online 2021 Mar 12. doi: 10.1136/bjophthalmol-2020-318483

PMCID:: PMC8961750

Article PDF–461K

Select item 891816119.

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

Article PDF–1.1M

Select item 826345820.

Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects

Andreas R. Janecke, Xiaoqin Liu, Rüdiger Adam, Sumanth Punuru, Arne Viestenz, Valeria Strauß, Martin Laass, Elizabeth Sanchez, Roberto Adachi, Martha P. Schatz, Ujwala S. Saboo, Naveen Mittal, Klaus Rohrschneider, Johanna Escher, Anuradha Ganesh, Sana Al Zuhaibi, Fathiya Al Murshedi, Badr AlSaleem, Majid Alfadhel, Siham Al Sinani, Fowzan S. Alkuraya, Lukas A. Huber, Thomas Müller, Ruth Heidelberger, Roger Janz

Hum Genet. 2021; 140(8): 1143–1156. Published online 2021 May 11. doi: 10.1007/s00439-021-02284-1

PMCID:: PMC8263458

Article PDF–3.5M

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