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Select item 105558561.

CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History

Malena Daich Varela, Michalis Georgiou, Yahya Alswaiti, Jamil Kabbani, Kaoru Fujinami, Yu Fujinami-Yokokawa, Shaheeni Khoda, Omar A. Mahroo, Anthony G. Robson, Andrew R. Webster, Alaa AlTalbishi, Michel Michaelides

Am J Ophthalmol. 2023 Feb; 246: 107–121. doi: 10.1016/j.ajo.2022.09.002

PMCID:: PMC10555856

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Select item 105314292.

The Structural Abnormalities Are Deeply Involved in the Cause of RPGRIP1-Related Retinal Dystrophy in Japanese Patients

Kaoruko Torii, Sachiko Nishina, Hazuki Morikawa, Kei Mizobuchi, Masakazu Takayama, Nobutaka Tachibana, Kentaro Kurata, Akiko Hikoya, Miho Sato, Tadashi Nakano, Maki Fukami, Noriyuki Azuma, Takaaki Hayashi, Hirotomo Saitsu, Yoshihiro Hotta

Int J Mol Sci. 2023 Sep; 24(18): 13678. Published online 2023 Sep 5. doi: 10.3390/ijms241813678

PMCID:: PMC10531429

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Select item 104190403.

Novel Variant IMPDH1 c.134A>G, p.(Tyr45Cys): Phenotype–Genotype Correlation Revealed Likely Benign Clinical Significance

Mirjana Bjeloš, Ana Ćurić, Mladen Bušić, Benedict Rak, Biljana Kuzmanović Elabjer, Leon Marković

Int J Mol Sci. 2023 Aug; 24(15): 11889. Published online 2023 Jul 25. doi: 10.3390/ijms241511889

PMCID:: PMC10419040

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Select item 103567084.

Qualitative exploration of the visual function impairments and impacts on vision-dependent activities of daily living in Retinitis Pigmentosa and Leber Congenital Amaurosis: content validation of the ViSIO-PRO and ViSIO-ObsRO measures

Christine Kay, Isabelle Audo, Christel Naujoks, Claudio Spera, M. Dominik Fischer, Jane Green, Todd Durham, Nicola Williamson, Helena Bradley, Melissa Barclay, Joel Sims, Judit Banhazi, Francesco Patalano

J Patient Rep Outcomes. 2023 Dec; 7: 74. Published online 2023 Jul 19. doi: 10.1186/s41687-023-00610-x

PMCID:: PMC10356708

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Select item 102926695.

Cat LCA-CRX Model, Homozygous for an Antimorphic Mutation Has a Unique Phenotype

Laurence M. Occelli, Nicholas M. Tran, Shiming Chen, Simon M. Petersen-Jones

Transl Vis Sci Technol. 2023 Jun; 12(6): 15. Published online 2023 Jun 23. doi: 10.1167/tvst.12.6.15

PMCID:: PMC10292669

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Select item 102190056.

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

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Select item 101504797.

The genetic landscape of inherited retinal dystrophies in Arabs

Lama Jaffal, Hawraa Joumaa, Jinane Noureldine, Malak Banjak, Mariam Ibrahim, Zamzam Mrad, Ali Salami, Said El Shamieh

BMC Med Genomics. 2023; 16: 89. Published online 2023 May 1. doi: 10.1186/s12920-023-01518-7

PMCID:: PMC10150479

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Select item 99165738.

Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy

Jan-Philipp Bodenbender, Valerio Marino, Leon Bethge, Katarina Stingl, Tobias B. Haack, Saskia Biskup, Susanne Kohl, Laura Kühlewein, Daniele Dell’Orco, Nicole Weisschuh

Int J Mol Sci. 2023 Feb; 24(3): 2709. Published online 2023 Jan 31. doi: 10.3390/ijms24032709

PMCID:: PMC9916573

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Select item 98139669.

Adeno-associated virus vector intraperitoneal injection induces colonic mucosa and submucosa transduction and alters the diversity and composition of the faecal microbiota in rats

Li-Tian Ma, Jing-Xuan Lian, Yang Bai, Meng-Juan Shang, Zhe-Zhe Zhang, Fei-Fei Wu, Jing Chen, Xian-Bo Meng, Jin Zheng, Tian Li, Yun-Qing Li, Jing-Jie Wang

Front Cell Infect Microbiol. 2022; 12: 1028380. Published online 2022 Dec 22. doi: 10.3389/fcimb.2022.1028380

PMCID:: PMC9813966

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Select item 978952610.

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

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Select item 948219011.

A novel nonsense variant (c.1499C>G) in CRB1 caused Leber congenital amaurosis-8 in a Chinese family and a literature review

Wenhua Duan, Taicheng Zhou, Huawei Jiang, Minhui Zhang, Min Hu, Liwei Zhang

BMC Med Genomics. 2022; 15: 197. Published online 2022 Sep 17. doi: 10.1186/s12920-022-01356-z

PMCID:: PMC9482190

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Select item 901035812.

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

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Select item 812740413.

Durable Vision Improvement Following a Single Treatment with Antisense Oligonucleotide Sepofarsen: a Case Report

Artur V. Cideciyan, Samuel G. Jacobson, Allen C. Ho, Alexandra V. Garafalo, Alejandro J. Roman, Alexander Sumaroka, Arun K. Krishnan, Malgorzata Swider, Michael R. Schwartz, Aniz Girach

Nat Med. Author manuscript; available in PMC 2021 Nov 1.

Published in final edited form as: Nat Med. 2021 May; 27(5): 785–789. Published online 2021 Apr 1. doi: 10.1038/s41591-021-01297-7

PMCID:: PMC8127404

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Select item 773156214.

Novel gene variants in Polish patients with Leber congenital amaurosis (LCA)

Anna Skorczyk-Werner, Zuzanna Niedziela, Marcin Stopa, Maciej Robert Krawczyński

Orphanet J Rare Dis. 2020; 15: 345. Published online 2020 Dec 11. doi: 10.1186/s13023-020-01634-y

PMCID:: PMC7731562

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Select item 751860415.

Pathogenic variants of AIPL1, MERTK, GUCY2D, and FOXE3 in Pakistani families with clinically heterogeneous eye diseases

Muhammad Rashid, Muhammad Qasim, Rafaqat Ishaq, Shazia Anwer Bukhari, Zureesha Sajid, Usman Ali Ashfaq, Asma Haque, Zubair M. Ahmed

PLoS One. 2020; 15(9): e0239748. Published online 2020 Sep 25. doi: 10.1371/journal.pone.0239748

PMCID:: PMC7518604

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Select item 740892716.

Clinical and Genetic Characteristics of 15 Affected Patients From 12 Japanese Families with GUCY2D-Associated Retinal Disorder

Xiao Liu, Kaoru Fujinami, Kazuki Kuniyoshi, Mineo Kondo, Shinji Ueno, Takaaki Hayashi, Kiyofumi Mochizuki, Shuhei Kameya, Lizhu Yang, Yu Fujinami-Yokokawa, Gavin Arno, Nikolas Pontikos, Hiroyuki Sakuramoto, Taro Kominami, Hiroko Terasaki, Satoshi Katagiri, Kei Mizobuchi, Natsuko Nakamura, Kazutoshi Yoshitake, Yozo Miyake, Shiying Li, Toshihide Kurihara, Kazuo Tsubota, Takeshi Iwata, Kazushige Tsunoda, Japan Eye Genetics Consortium

Transl Vis Sci Technol. 2020 May; 9(6): 2. Published online 2020 May 11. doi: 10.1167/tvst.9.6.2

PMCID:: PMC7408927

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Select item 713829617.

The pathogenicity of novel GUCY2D mutations in Leber congenital amaurosis 1 assessed by HPLC-MS/MS

Xue Feng, Tianying Wei, Junhui Sun, Yuqin Luo, Yanan Huo, Ping Yu, Jiao Chen, Xiaoming Wei, Ming Qi, Yinghui Ye

PLoS One. 2020; 15(4): e0231115. Published online 2020 Apr 7. doi: 10.1371/journal.pone.0231115

PMCID:: PMC7138296

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Select item 702381818.

The effect of human gene therapy for RPE65-associated Leber’s congenital amaurosis on visual function: a systematic review and meta-analysis

Xue Wang, Chaofeng Yu, Radouil T. Tzekov, Yihua Zhu, Wensheng Li

Orphanet J Rare Dis. 2020; 15: 49. Published online 2020 Feb 14. doi: 10.1186/s13023-020-1304-1

PMCID:: PMC7023818

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Select item 701665519.

Pathogenicity Reclassification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy

Fabiana L. Motta, Renan P. Martin, Fernanda B. O. Porto, Elizabeth S. Wohler, Rosane G. Resende, Caio P. Gomes, João B. Pesquero, Juliana M. F. Sallum

Genes (Basel) 2020 Jan; 11(1): 24. Published online 2019 Dec 24. doi: 10.3390/genes11010024

PMCID:: PMC7016655

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Select item 701338020.

GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies

Zaina Bouzia, Michalis Georgiou, Sarah Hull, Anthony G. Robson, Kaoru Fujinami, Tryfon Rotsos, Nikolas Pontikos, Gavin Arno, Andrew R. Webster, Alison J. Hardcastle, Alessia Fiorentino, Michel Michaelides

Am J Ophthalmol. 2020 Feb; 210: 59–70. doi: 10.1016/j.ajo.2019.10.019

PMCID:: PMC7013380

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