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Select item 69352301.

The history of neuromyelitis optica. Part 2: ‘Spinal amaurosis’, or how it all began

S. Jarius, B. Wildemann

J Neuroinflammation. 2019; 16: 280. Published online 2019 Dec 28. doi: 10.1186/s12974-019-1594-1

PMCID:: PMC6935230

Article PDF–2.7M

Select item 80831102.

Tackling the Challenges of Product Development Through a Collaborative Rare Disease Network: The Foundation Fighting Blindness Consortium

Todd A. Durham, Jacque L. Duncan, Allison R. Ayala, David G. Birch, Janet K. Cheetham, Frederick L. Ferris, III, Carel B. Hoyng, Mark E. Pennesi, José-Alain Sahel, for the Foundation Fighting Blindness Consortium Investigator Group

Transl Vis Sci Technol. 2021 Apr; 10(4): 23. Published online 2021 Apr 21. doi: 10.1167/tvst.10.4.23

PMCID:: PMC8083110

Article PDF–202K

Select item 83921133.

Leber’s Congenital Amaurosis: Current Concepts of Genotype-Phenotype Correlations

Chu-Hsuan Huang, Chung-May Yang, Chang-Hao Yang, Yu-Chih Hou, Ta-Ching Chen

Genes (Basel) 2021 Aug; 12(8): 1261. Published online 2021 Aug 19. doi: 10.3390/genes12081261

PMCID:: PMC8392113

Article PDF–325K

Select item 83152124.

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

Article PDF–3.2M

Select item 68214655.

CRISPR-Cas9–mediated therapeutic editing of Rpe65 ameliorates the disease phenotypes in a mouse model of Leber congenital amaurosis

Dong Hyun Jo, Dong Woo Song, Chang Sik Cho, Un Gi Kim, Kyu Jun Lee, Kihwang Lee, Sung Wook Park, Daesik Kim, Jin Hyoung Kim, Jin-Soo Kim, Seokjoong Kim, Jeong Hun Kim, Jung Min Lee

Sci Adv. 2019 Oct; 5(10): eaax1210. Published online 2019 Oct 30. doi: 10.1126/sciadv.aax1210

PMCID:: PMC6821465

Article PDF–4.6M

Select item 77011576.

Voretigene Neparvovec and Gene Therapy for Leber’s Congenital Amaurosis: Review of Evidence to Date

Srikanta Kumar Padhy, Brijesh Takkar, Raja Narayanan, Pradeep Venkatesh, Subhadra Jalali

Appl Clin Genet. 2020; 13: 179–208. Published online 2020 Nov 25. doi: 10.2147/TACG.S230720

PMCID:: PMC7701157

Article PDF–2.3M

Select item 102190057.

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 80781188.

LEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS—SEVERE VISION IMPAIRMENT WITH A HIGH UNMET MEDICAL NEED: A Review

Bart P. Leroy, David G. Birch, Jacque L. Duncan, Byron L. Lam, Robert K. Koenekoop, Fernanda B. O. Porto, Stephen R. Russell, Aniz Girach

Retina. 2021 May; 41(5): 898–907. Published online 2021 Feb 16. doi: 10.1097/IAE.0000000000003133

PMCID:: PMC8078118

Article PDF–580K

Select item 77074609.

Rapid assessment of avoidable blindness and cataract surgery coverage among forcibly displaced Myanmar Nationals (Rohingya refugees) in Cox’s Bazar, Bangladesh

A. H. M. Enayet Hussain, Munir Ahmed, Jerry E. Vincent, Johurul Islam, Yuddha D. Sapkota, Taraprasad Das, Nathan Congdon, Lutful Husain, Gulam Khandaker, Mohammad Muhit, Mohammad Awlad Hossain, Danny Haddad

PLoS One. 2020; 15(12): e0243005. Published online 2020 Dec 1. doi: 10.1371/journal.pone.0243005

PMCID:: PMC7707460

Article PDF–395K

Select item 901035810.

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 390463011.

OTX2 loss causes rod differentiation defect in CRX-associated congenital blindness

Jerome E. Roger, Avinash Hiriyanna, Norimoto Gotoh, Hong Hao, Debbie F. Cheng, Rinki Ratnapriya, Marie-Audrey I. Kautzmann, Bo Chang, Anand Swaroop

J Clin Invest. 2014 Feb 3; 124(2): 631–643. Published online 2014 Jan 2. doi: 10.1172/JCI72722

PMCID:: PMC3904630

Article PDF–6.2M

Select item 431760412.

Review and update on the molecular basis of Leber congenital amaurosis

Oscar Francisco Chacon-Camacho, Juan Carlos Zenteno

World J Clin Cases. 2015 Feb 16; 3(2): 112–124. Published online 2015 Feb 16. doi: 10.12998/wjcc.v3.i2.112

PMCID:: PMC4317604

Article PDF–1.1M

Select item 489942313.

Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups

David A. Parfitt, Amelia Lane, Conor M. Ramsden, Amanda-Jayne F. Carr, Peter M. Munro, Katarina Jovanovic, Nele Schwarz, Naheed Kanuga, Manickam N. Muthiah, Sarah Hull, Jean-Marc Gallo, Lyndon da Cruz, Anthony T. Moore, Alison J. Hardcastle, Peter J. Coffey, Michael E. Cheetham

Cell Stem Cell. 2016 Jun 2; 18(6): 769–781. doi: 10.1016/j.stem.2016.03.021

PMCID:: PMC4899423

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Select item 570257514.

The genetic profile of Leber congenital amaurosis in an Australian cohort

Jennifer A. Thompson, John N. De Roach, Terri L. McLaren, Hannah E. Montgomery, Ling H. Hoffmann, Isabella R. Campbell, Fred K. Chen, David A. Mackey, Tina M. Lamey

Mol Genet Genomic Med. 2017 Nov; 5(6): 652–667. Published online 2017 Aug 22. doi: 10.1002/mgg3.321

PMCID:: PMC5702575

Article PDF–647K

Select item 449230215.

Age-dependent effects of RPE65 gene therapy for Leber’s congenital amaurosis: a phase 1 dose-escalation trial

Albert M Maguire, Katherine A High, Alberto Auricchio, J Fraser Wright, Eric A Pierce, Francesco Testa, Federico Mingozzi, Jeannette L Bennicelli, Gui-shuang Ying, Settimio Rossi, Ann Fulton, Kathleen A Marshall, Sandro Banfi, Daniel C Chung, Jessica IW Morgan, Bernd Hauck, Olga Zelenaia, Xiaosong Zhu, Leslie Raffini, Frauke Coppieters, Elfride De Baere, Kenneth S Shindler, Nicholas J Volpe, Enrico M Surace, Carmela Acerra, Arkady Lyubarsky, T Michael Redmond, Edwin Stone, Junwei Sun, Jennifer Wellman McDonnell, Bart P Leroy, Francesca Simonelli, Jean Bennett

Lancet. Author manuscript; available in PMC 2015 Jul 6.

Published in final edited form as: Lancet. 2009 Nov 7; 374(9701): 1597–1605. Published online 2009 Oct 23. doi: 10.1016/S0140-6736(09)61836-5

Correction in:: volume 375 on page 30

PMCID:: PMC4492302

Article PDF–1.3M

Select item 802477416.

Inflammation in Viral Vector-Mediated Ocular Gene Therapy: A Review and Report From a Workshop Hosted by the Foundation Fighting Blindness, 9/2020

Ying Kai Chan, Andrew D. Dick, Sara Mary Hall, Thomas Langmann, Curtis L. Scribner, Brian C. Mansfield, for the Ocular Gene Therapy Inflammation Working Group

Transl Vis Sci Technol. 2021 Apr; 10(4): 3. Published online 2021 Apr 2. doi: 10.1167/tvst.10.4.3

PMCID:: PMC8024774

Article PDF–390K

Select item 812369617.

An Update on Gene Therapy for Inherited Retinal Dystrophy: Experience in Leber Congenital Amaurosis Clinical Trials

Wei Chiu, Ting-Yi Lin, Yun-Chia Chang, Henkie Isahwan-Ahmad Mulyadi Lai, Shen-Che Lin, Chun Ma, Aliaksandr A. Yarmishyn, Shiuan-Chen Lin, Kao-Jung Chang, Yu-Bai Chou, Chih-Chien Hsu, Tai-Chi Lin, Shih-Jen Chen, Yueh Chien, Yi-Ping Yang, De-Kuang Hwang

Int J Mol Sci. 2021 May; 22(9): 4534. Published online 2021 Apr 26. doi: 10.3390/ijms22094534

PMCID:: PMC8123696

Article PDF–2.4M

Select item 477929718.

Let There Be Light: Gene and Cell Therapy for Blindness

Deniz Dalkara, Olivier Goureau, Katia Marazova, José-Alain Sahel

Hum Gene Ther. 2016 Feb 1; 27(2): 134–147. Published online 2016 Jan 11. doi: 10.1089/hum.2015.147

PMCID:: PMC4779297

Article PDF–362K

Select item 416912219.

AAV2 Gene Therapy Readministration in Three Adults with Congenital Blindness

Jean Bennett, Manzar Ashtari, Jennifer Wellman, Kathleen A. Marshall, Laura L. Cyckowski, Daniel C. Chung, Sarah McCague, Eric A. Pierce, Yifeng Chen, Jeannette L. Bennicelli, Xiaosong Zhu, Gui-shuang Ying, Junwei Sun, J. Fraser Wright, Alberto Auricchio, Francesca Simonelli, Kenneth S. Shindler, Federico Mingozzi, Katherine A. High, Albert M. Maguire

Sci Transl Med. Author manuscript; available in PMC 2014 Sep 19.

Published in final edited form as: Sci Transl Med. 2012 Feb 8; 4(120): 120ra15. doi: 10.1126/scitranslmed.3002865

PMCID:: PMC4169122

Article PDF–1.7M

Select item 1053117120.

Gene Therapy in Hereditary Retinal Dystrophies: The Usefulness of Diagnostic Tools in Candidate Patient Selections

Mariaelena Malvasi, Lorenzo Casillo, Filippo Avogaro, Alessandro Abbouda, Enzo Maria Vingolo

Int J Mol Sci. 2023 Sep; 24(18): 13756. Published online 2023 Sep 6. doi: 10.3390/ijms241813756

PMCID:: PMC10531171

Article PDF–458K

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