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Subretinal timrepigene emparvovec in adult men with choroideremia: a randomized phase 3 trial

Journal article

MacLaren RE. et al, (2023), Nature Medicine

Current and Future Landscape in Genetic Therapies for Leber Hereditary Optic Neuropathy.

Journal article

Shamsnajafabadi H. et al, (2023), Cells, 12

Changes in Retinal Sensitivity Associated With Cotoretigene Toliparvovec in X-Linked Retinitis Pigmentosa With RPGR Gene Variations

Journal article

von Krusenstiern L. et al, (2023), JAMA Ophthalmology, 141, 275 - 275

Gene-agnostic therapeutic approaches for inherited retinal degenerations

Journal article

John MC. et al, (2023), Frontiers in Molecular Neuroscience, 15

Is RPGR-related retinal dystrophy associated with systemic disease? A case series

Journal article

Han RC. et al, (2023), Ophthalmic Genetics, 1 - 8

Impaired glutamylation of RPGR ORF15 underlies the cone-dominated phenotype associated with truncating distal ORF15 variants

Journal article

Cehajic-Kapetanovic J. et al, (2022), Proceedings of the National Academy of Sciences, 119

Compound dominant-null heterozygosity in a family with RP1-related retinal dystrophy

Journal article

Buckley TMW. et al, (2022), American Journal of Ophthalmology Case Reports, 28

Response: 'letter to the editor: emerging gene therapy products for RPGR-associated X-linked retinitis pigmentosa'.

Journal article

Martinez-Fernandez de la Camara C. et al, (2022), Expert Opin Emerg Drugs, 27, 449 - 450

Potential CRISPR Base Editing Therapeutic Options in a Sorsby Fundus Dystrophy Patient.

Journal article

Elsayed MEAA. et al, (2022), Genes (Basel), 13

Emerging gene therapy products for RPGR-associated X-linked retinitis pigmentosa

Journal article

Martinez-Fernandez de la Camara C. et al, (2022), Expert Opinion on Emerging Drugs, 27, 431 - 443

Impaired glutamylation of ORF15 presents a unique phenotype in RPGRrelated retinal dystrophy

Conference paper

Kapetanovic JC. et al, (2022), INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 63

RPGR(ORF15) glutamylation impaired by mutations in its C-terminal basic domain

Conference paper

dela Camara CM-F. et al, (2022), INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 63

Characterizing Visual Fields in RPGR Related Retinitis Pigmentosa Using Octopus Static-Automated Perimetry.

Journal article

Buckley TMW. et al, (2022), Transl Vis Sci Technol, 11

Bioengineering strategies for restoring vision.

Journal article

Cehajic-Kapetanovic J. et al, (2022), Nat Biomed Eng

Choroideremia and Other Hereditary Conditions Manifesting with Choroidal Atrophy

Chapter

Song WK. et al, (2022), Albert and Jakobiec's Principles and Practice of Ophthalmology: Fourth Edition, 3997 - 4012

Correlation between fundus autofluorescence pattern and retinal sensitivity measured by microperimetry in patients with choroideremia

Conference paper

Poli FE. et al, (2022), INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 63

Gene therapy and treatment trials

Chapter

MacLaren RE. and Cehajic-Kapetanovic J., (2022), Clinical Ophthalmic Genetics and Genomics, 63 - 66

Clinical applications of microperimetry in RPGR ‐related retinitis pigmentosa: a review

Journal article

Buckley TMW. et al, (2021), Acta Ophthalmologica, 99, 819 - 825

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