High-efficiency base editing in the retina in primates and human tissues

Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage

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Programmable base editing of A•T to G•C in genomic DNA without DNA cleavage

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Predicting splicing from primary sequence with deep learning

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Adeno-associated virus vector as a platform for gene therapy delivery

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Cas-OFFinder: A fast and versatile algorithm that searches for potential off-target sites of Cas9 RNA-guided endonucleases

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Maximum Entropy Modeling of Short Sequence Motifs with Applications to RNA Splicing Signals

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Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65 -mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial

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The Major Cell Populations of the Mouse Retina

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Improving cytidine and adenine base editors by expression optimization and ancestral reconstruction

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Mutation of the Stargardt Disease Gene ( ABCR ) in Age-Related Macular Degeneration

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Cell Types of the Human Retina and Its Organoids at Single-Cell Resolution

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Directed evolution of adenine base editors with increased activity and therapeutic application

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In silico prediction of splice-altering single nucleotide variants in the human genome

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In vivo base editing rescues Hutchinson–Gilford progeria syndrome in mice

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Cytosine and adenine base editing of the brain, liver, retina, heart and skeletal muscle of mice via adeno-associated viruses

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Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases

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Clinical-grade stem cell–derived retinal pigment epithelium patch rescues retinal degeneration in rodents and pigs

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Generation of a ciliary margin-like stem cell niche from self-organizing human retinal tissue

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Woodchuck hepatitis virus contains a tripartite posttranscriptional regulatory element

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Highly Efficient Mouse Genome Editing by CRISPR Ribonucleoprotein Electroporation of Zygotes

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Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations

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ABCA4 is an N-retinylidene-phosphatidylethanolamine and phosphatidylethanolamine importer

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Targeting neuronal and glial cell types with synthetic promoter AAVs in mice, non-human primates and humans

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Intein-mediated protein trans-splicing expands adeno-associated virus transfer capacity in the retina

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Quantitative Fundus Autofluorescence in Recessive Stargardt Disease

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Restoration of visual function in adult mice with an inherited retinal disease via adenine base editing

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Base editing rescue of spinal muscular atrophy in cells and in mice

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A promiscuous split intein with expanded protein engineering applications

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Fundus Autofluorescence in the Abca4 −/− Mouse Model of Stargardt Disease—Correlation With Accumulation of A2E, Retinal Function, and Histology

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Adenine base editors catalyze cytosine conversions in human cells

Kim, H. S., Jeong, Y. K., Hur, J. K., Kim, J., & Bae, S. (2019) · Nature Biotechnology · doi:10.1038/s41587-019-0254-4 · Cited by 127 · see citing works

Variation of Codons 1961 and 2177 of the Stargardt Disease Gene Is Not Associated With Age-Related Macular Degeneration

Guymer, R. H. (2001) · Archives of Ophthalmology · doi:10.1001/archopht.119.5.745 · Cited by 117 · see citing works

Efficient precise in vivo base editing in adult dystrophic mice

Xu, L. M., Zhang, C., Bailin, P. L., Wang, P., Gao, Y., Mohler, P. J., Mokadam, N. A., Ma, J., Arnold, W. D., & Han, R. (2021) · Nature Communications · doi:10.1038/s41467-021-23996-y · Cited by 109 · see citing works

G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy

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Tissue Plasminogen Activating Factor Assisted Removal of Subretinal Hemorrhage

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In vivo base editing rescues cone photoreceptors in a mouse model of early-onset inherited retinal degeneration

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Mutation of the Stargardt Disease Gene (ABCR) in Age-related Macular Degeneration

Allikmets, R. L., Shroyer, N. F., Singh, N. V., Seddon, J. M., Lewis, R. A., Bernstein, P. S., Peiffer, A. P., Zabriskie, N. A., Li, Y., Hutchinson, A., et al. (1998) · Retina · doi:10.1097/00006982-199818020-00027 · Cited by 88 · see citing works

Epithelial phenotype restoring drugs suppress macular degeneration phenotypes in an iPSC model

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Analytical characterization of full, intermediate, and empty AAV capsids

McColl-Carboni, A., Dollive, S., Laughlin, S., Lushi, R., MacArthur, M., Zhou, S., Gagnon, J., Smith, C. A., Burnham, B. L., Horton, R., et al. (2024) · Gene Therapy · doi:10.1038/s41434-024-00444-2 · Cited by 78 · see citing works

Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8

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Assessment of foveal cone photoreceptors in Stargardt's macular dystrophy using a small dot detection task

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Quantitative and Digital Droplet-Based AAV Genome Titration

Sanmiguel, J. C., Gao, G., & Vandenberghe, L. H. (2019) · Methods in molecular biology · doi:10.1007/978-1-4939-9139-6_4 · Cited by 69 · see citing works

Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease

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Two-Dimensional Droplet Digital PCR as a Tool for Titration and Integrity Evaluation of Recombinant Adeno-Associated Viral Vectors

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Cryo-EM structures of the ABCA4 importer reveal mechanisms underlying substrate binding and Stargardt disease

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Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity

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Effect on grating identification of sampling with degenerate arrays

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Cis-acting modifiers in the ABCA4 locus contribute to the penetrance of the major disease-causing variant in Stargardt disease

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Dual-specificity splice sites function alternatively as 5′ and 3′ splice sites

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Triphasic developmentally guided protocol to generate retinal pigment epithelium from induced pluripotent stem cells

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Global-scale CRISPR gene editor specificity profiling by ONE-seq identifies population-specific, variant off-target effectsPreprint

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Cell-autonomous lipid-handling defects in Stargardt iPSC-derived retinal pigment epithelium cells

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How Many Cones are Required to “See?”: Lessons from Stargardt’s Macular Dystrophy and from Modeling with Degenerate Photoreceptor Arrays

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Effect of retinol dehydrogenase gene transfer in a novel rat model of Stargardt disease

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Induced Pluripotent (iPSC) and Mesenchymal (MSC) Stem Cells for In Vitro Disease Modeling and Regenerative Medicine

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Targeted delivery of genome editors in vivo

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Base and Prime Editing for Inherited Retinal Diseases: Delivery Platforms, Safety, Efficacy, and Translational Perspectives

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AAV-delivered engineered suppressor tRNA rescues visual function in mice with an inherited retinal disease

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Strategies and mechanisms of precision genome engineering: From gene editing to genome writing

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Innovative therapies for inherited retinal dystrophies: navigating DNA, RNA, and protein approaches

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The path to biotechnological singularity: Current breakthroughs and outlook

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Eyes shut homolog (EYS): Connecting molecule to disease

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Toward improved AAV gene therapies for retinal disorders: challenges and advances

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Optogenetic tools and their applications for therapeutic intervention in end-stage inherited retinal diseases

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Gene Therapy Strategies for the Treatment of Bestrophinopathies

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A comparative review of DNA assembly strategies: From traditional to modern

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Genetics and eye health: research advances and implications for primary eyecare

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Retinal and Choriocapillaris Thickness and Age in Macaques in Development and Aging

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Retinal gene therapies for inherited ocular diseases: Translational delivery strategies from bench to bedside

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Generation of a compound heterozygous ABCA4 rat model with pathological features of STGD1

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Organoids in Genetic Disorders: from Disease Modeling to Translational Applications

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Precision gene therapy: Tailoring rAAV-mediated gene therapies for inherited retinal dystrophies (IRDs)

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Exploring copper metabolism and cuproptosis, and their implications in ocular diseases

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Revisiting retinal and macular degeneration in the genomics era

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Delivery Systems for Therapeutic Genome Editing: Challenges, Innovations, and Future Perspectives

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3D Quantification of Viral Transduction Efficiency in Living Human Retinal Organoids

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Investigation of ABCA4 Missense Variants and Potential Small Molecule Rescue in Retinal Organoids

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AAV-mediated exon skipping therapy for Usher syndrome, type 2A

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Intravitreal adenine base editing of RS1 improves vision in a preclinical mouse model of retinoschisis

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Improving viral-based gene delivery to mammalian cells through simple co-incubation with transportan peptide in vitro

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Adenine base editor correction of pathogenic variations associated with inherited retinal dystrophy in patient iPSC and retinal organoids

Leung, A., Perdigão, P. R. L., Sacristán-Reviriego, A., Sladen, P. E., Aguzzi, E. A., Rezek, F. O., Ziaka, K., Guarascio, R., Hau, K.-L., Cheetham, M. E., et al. (2025) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2025.102777 · Cited by 1 · see citing works

Safety and neuroprotective efficacy of the VCP inhibitor ML240 in large-animal and human retinal explants: a preclinical ex vivo study

Almansa-Garcia, A.-C., Armento, A., Cao, B., Petremann-Dumé, A.-S., Salmaso, S., Caliceti, P., Henes, C., Bolz, S., Kilger, E., Süsskind, D., et al. (2026) · BMC Medicine · doi:10.1186/s12916-025-04610-0 · Cited by 1 · see citing works

Lipid-nanoparticle-mediated base editing of the trabecular meshwork rescues glaucoma in vivo

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Genetic Correlates of Phenotypic Variability in c.5882G>A p.(Gly1961Glu)-Associated Stargardt Disease

Pas, J. A. A. H., Künzel, S. H., Ansari, G., Pfau, K., Chang, P., Herrmann, P., Holz, F. G., Hoyng, C. B., & Pfau, M. (2026) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.67.2.32 · Cited by 1 · see citing works

Precision Is Not Enough: When Tools Outpace Translation in Ocular Gene Therapy

Elsayed, M. E. A. A., & MacLaren, R. E. (2026) · Genes · doi:10.3390/genes17030283 · Cited by 1 · see citing works

Stargardt disease: progress, enigmas, and prospects for therapeutic intervention

Palmgren, V. A. C., Pindwarawala, M., Hosseinzadeh, A., & Molday, R. S. (2026) · Expert Review of Ophthalmology · doi:10.1080/17469899.2026.2645188 · Cited by 1 · see citing works

Human retinal organoids: from developmental biology to translational applications

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Genetische Therapien für Morbus Stargardt

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Precise CRISPR/Cas9 and Cas12 Correction Using Lipoplexes in Retinal Models Derived from Patients with Inherited Retinal Dystrophies

Siles, L., Ruiz-Nogales, S., Méndez-Vendrell, P., & Pomares, E. (2026) · Cells · doi:10.3390/cells15050457

Mini-organs and early embryos in vitro: what is at stake?

Thétiot, M., Cossart, P., & Bally‐Cuif, L. (2025) · Comptes Rendus Biologies · doi:10.5802/crbiol.185

Engineering single-AAV CRISPR-Cas13 RNA base editors for treatment of inherited retinal diseasesPreprint

Kumar, S., Chang, H.-A., Aubin, D., Hsiao, Y.-W., Brunet, A. A., Yang, J., Huang, L., Luu, C. D., Hewitt, A. W., Li, F., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.08.06.668808

Targeting the biochemical signature of age-related macular degeneration: a preliminary study of potential diagnostic and prognostic biomarkers

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One down but many more to go: the state of gene therapy for inherited retinal disease

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Lipid nanoparticle mediated base editing of the Q344X rhodopsin mutation associated with retinitis pigmentosa

Palmgren, V. A. C., Cheng, M. H. Y., Zhang, Y., Carlaw, T., Morin, T., Leung, J., Ross, C. J., Cullis, P. R., & Molday, R. S. (2025) · Gene Therapy · doi:10.1038/s41434-025-00584-z

CRISPR as a therapeutic tool for inherited retinal degenerations: Advances, challenges, and future directions

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Commentary on: ribozyme-activated RNA trans-ligation: an emerging strategy for large gene delivery in muscular dystrophies

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From “Simulation” to “Mirror”: Gene editing and humanization redefines the next-generation precision oncology animal model

Wang, Z., Zhou, L., & Ming, L. (2026) · Gene · doi:10.1016/j.gene.2026.150161

Proliferative Capacity and Neural Lineage Commitment of Müller Glia in the Adult Human RetinaPreprint

Magda, D. P., Tyler, T., Gerendás, L., Kilin, F., Csorba, A., György, B., Picelli, S., Nagy, Z. Z., & Szabó, A. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.04.27.717633

Crossing the blood–brain barrier: Advances and frontiers of AAV gene therapy in central nervous system disorders

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Dysregulated flow responses drive pathogenesis in a cellular model of Sturge–Weber syndromePreprint

Banno, K., Yokokawa, R., Myslinski, J., Maruyama, K., Watanabe, S., Yoshida, J., Kameda, Y., Kakita, A., Takao, M., Iwasaki, M., et al. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.06.02.729175

Engineered bispecific antibodies targeting IL-1 and VEGF for synergistic neovascular age-related macular degeneration treatment

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InsightRP2—An Interdisciplinary Approach Toward Therapy Development in RP2 -Associated Retinopathy

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Antioxidant Strategies for Inherited Retinal Degenerations in the Era of Gene Therapy

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Modern Genetic Technologies for the Treatment of Stargardt Syndrome. Part 1. Non-viral Methods OF Delivery of Therapeutic Constructs

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Insights Into RP2 ‐Associated Retinopathy: From Molecular Basis to Clinical Translation

Bögershausen, N., Take, P., Gerhardt, M. J., Fedorenko, A. V., Strohmeyer, C., Bayati, R., Li, Y., Yigit, G., Kaygusuz, E., Gutiérrez‐Gutiérrez, Ó., et al. (2026) · Human Mutation · doi:10.1155/humu/1839164

iPSC-derived RPE and retinal organoids from two phenotypically different Stargardt disease patients show differences in ABCA4 function

Navinés‐Ferrer, A., Méndez‐Vendrell, P., Siles, L., Navarro, R., Burés‐Jelstrup, A., & Pomares, E. (2026) · iScience · doi:10.1016/j.isci.2026.117998

High-efficiency base editing for Stargardt disease in mice, non-human primates, and human retina tissuePreprint

Muller, A., Sullivan, J., Schwarzer, W., Wang, M., Park‐Windhol, C., Klingler, B., Matsell, J., Hostettler, S. M., Galliker, P., Duman, M., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.04.17.535579 · Cited by 9 · see citing works

High-efficiency base editing for Stargardt disease in mice, \nnon-human primates, and human retina tissue

Muller, A. (2024) · edoc (University of Basel)

Gene editing for macular degeneration

György, B., Muller, A., Schwarzer, W., Wang, M., Hasler, P. W., Janeschitz‐Kriegl, L., Matsell, J., Moreau, P.-H., Azoulay, T., Szabo, A., et al. (2026) · German Medical Science (German Research Foundation) · doi:10.3205/26rg64

Rapid and Reliable Quantification of Prime Editing Targeting Within the Porcine ABCA4 Gene Using a BRET-Based Sensor

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Developing a gene therapy for Stargardt Disease

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