ArticleHuman gene therapy2013
Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy.
Article in Human gene therapy, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 81 papers.
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Who cites it
81 citing papers in PubMed, 109 citations in OpenAlex.
- FREQUENT SUBCLINICAL MACULAR CHANGES IN COMBINED BRAF/MEK INHIBITION WITH HIGH-DOSE HYDROXYCHLOROQUINE AS TREATMENT FOR ADVANCED METASTATIC BRAF MUTANT MELANOMA: Preliminary Results From a Phase I/II Clinical Treatment Trial.Retina (Philadelphia, Pa.) · 2019Trial
- Changes in outer retinal microstructures during six month period in eyes with acute zonal occult outer retinopathy-complex.PloS one · 2014Trial
- Gene therapy rescues cone function inMolecular therapy. Advances · 2026Article
- Molecular mechanisms limiting the AAV gene therapy treatment window in mouse models of blue cone monochromacy.Communications biology · 2025Article
- Measuring Rod- and Cone-Photoreceptor-Specific Vision in Inherited Retinal Diseases Using a Commercial Perimeter.Investigative ophthalmology & visual science · 2025Article
- Photoreceptor Disease at Ambiguous Transition Zones in Inherited Retinal Degenerations.Translational vision science & technology · 2025Article
- Molecular Mechanisms Limiting the Therapeutic Window of AAV Gene Therapy in Mouse Models of Blue Cone Monochromacy.bioRxiv : the preprint server for biology · 2025Article
- Retinal Degeneration Associated With Biallelic RDH12 Variants: Longitudinal Evaluation of Retinal Structure and Visual Function in Pediatric Patients.Investigative ophthalmology & visual science · 2024Article
- Evaluation of Retinal Structure and Visual Function in Blue Cone Monochromacy to Develop Clinical Endpoints for L-opsin Gene Therapy.International journal of molecular sciences · 2024Article
- S-cone contribution to oscillatory potentials in patients with blue cone monochromacy.Documenta ophthalmologica. Advances in ophthalmology · 2024Article
- Retinal response to light exposure in BEST1-mutant dogs evaluated with ultra-high resolution OCT.Vision research · 2024Article
- Structural and functional rescue of cones carrying the most common cone opsin C203R missense mutation.JCI insight · 2024Article
- Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases.Journal of medical genetics · 2024Article
- Inherited Retinal Degeneration Caused by Dehydrodolichyl Diphosphate Synthase Mutation-Effect of anInternational journal of molecular sciences · 2024Article
- Dyschromatopsia: a comprehensive analysis of mechanisms and cutting-edge treatments for color vision deficiency.Frontiers in neuroscience · 2024Review
- Durable vision improvement after a single intravitreal treatment with antisense oligonucleotide inAmerican journal of ophthalmology case reports · 2023Article
- Treatment Strategy With Gene Editing for Late-Onset Retinal Degeneration Caused by a Founder Variant in C1QTNF5.Investigative ophthalmology & visual science · 2023Article
- Preclinical evaluation of ADVM-062, a novel intravitreal gene therapy vector for the treatment of blue cone monochromacy.Molecular therapy : the journal of the American Society of Gene Therapy · 2023Article
- Blue cone monochromacy and gene therapy.Vision research · 2023Review
- Photoreceptor function and structure in retinal degenerations caused by biallelic BEST1 mutations.Vision research · 2023Article
21 more citing papers are in PubMed but not listed here.
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Authors and funding
17 authors at 2 institutions in 1 country.
Funding
Abstract
Human X-linked blue-cone monochromacy (BCM), a disabling congenital visual disorder of cone photoreceptors, is a candidate disease for gene augmentation therapy. BCM is caused by either mutations in the red (OPN1LW) and green (OPN1MW) cone photoreceptor opsin gene array or large deletions encompassing portions of the gene array and upstream regulatory sequences that would predict a lack of red or green opsin expression. The fate of opsin-deficient cone cells is unknown. We know that rod opsin null mutant mice show rapid postnatal death of rod photoreceptors. Using in vivo histology with high-resolution retinal imaging, we studied a cohort of 20 BCM patients (age range 5-58) with large deletions in the red/green opsin gene array. Already in the first years of life, retinal structure was not normal: there was partial loss of photoreceptors across the central retina. Remaining cone cells had detectable outer segments that were abnormally shortened. Adaptive optics imaging confirmed the existence of inner segments at a spatial density greater than that expected for the residual blue cones. The evidence indicates that human cones in patients with deletions in the red/green opsin gene array can survive in reduced numbers with limited outer segment material, suggesting potential value of gene therapy for BCM.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.