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Open access

Case report

First published 2026

CNGA3-Related Achromatopsia: A 10-Year Follow-Up

Haaris M. Khan, Fernando A.G. Sumita, Rony Carlos Preti [...]

Journal of VitreoRetinal Diseases

Retricted access

Case report

First published 2023-7

A new mutation in the PDE6C gene in achromatopsia

Laura Jiménez-Siles, Francisco Zamorano-Martín, María García-Lorente [...]

European Journal of Ophthalmology

Open access

Research article

First published 2024-7

Achromatopsia: Long term visual performance and clinical characteristics

Yuval Margherita Eshel, Ora Abaev, Claudia Yahalom

European Journal of Ophthalmology

Retricted access

Research article

First published 1987-6

Aversion to Daytime Illumination in Patients with Congenital Achromatopsia

Rockefeller S. L. Young, James Price, Joseph Harrison

Perceptual and Motor Skills

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Research article

First published 2016-01

Cone-Specific Promoters for Gene Therapy of Achromatopsia and Other Retinal Diseases

Guo-Jie Ye, Ewa Budzynski, Peter Sonnentag [...]

Human Gene Therapy

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Research article

First published 2018-09

Development of Methodology and Study Protocol: Safety and Efficacy of a Single Subretinal Injection of rAAV.hCNGA3 in Patients with CNGA3 -Linked Achromatopsia Investigated in an Exploratory Dose-Escalation Trial

Nadine A. Kahle, Tobias Peters, Ditta Zobor [...]

Human Gene Therapy Clinical Development

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Research article

First published 2017-06

Safety and Efficacy Evaluation of rAAV2tYF-PR1.7-hCNGA3 Vector Delivered by Subretinal Injection in CNGA3 Mutant Achromatopsia Sheep

Elisha Gootwine, Ron Ofri, Eyal Banin [...]

Human Gene Therapy Clinical Development

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Research article

First published 2016-03

Safety and Biodistribution Evaluation in Cynomolgus Macaques of rAAV2tYF-PR1.7-hCNGB3,a Recombinant AAV Vector for Treatment of Achromatopsia

Guo-jie Ye, Ewa Budzynski, Peter Sonnentag [...]

Human Gene Therapy Clinical Development

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Research article

First published 2018-12

Six Years and Counting: Restoration of Photopic Retinal Function and Visual Behavior Following Gene Augmentation Therapy in a Sheep Model of CNGA3 Achromatopsia

Ron Ofri, Edward Averbukh, Raaya Ezra-Elia [...]

Human Gene Therapy

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Research article

First published 2016-03

Safety and Biodistribution Evaluation in CNGB3-Deficient Mice of rAAV2tYF-PR1.7-hCNGB3,a Recombinant AAV Vector for Treatment of Achromatopsia

Guo-jie Ye, Ewa Budzynski, Peter Sonnentag [...]

Human Gene Therapy Clinical Development

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