ArticleInvestigative ophthalmology & visual science2008
Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations.
Article in Investigative ophthalmology & visual science, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00481546 (Phase I Trial of Ocular Subretinal Injection of a Recombinant Adeno-Associated Virus), which is not on this map. Cited by 57 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Phase I Trial of Ocular Subretinal Injection of a Recombinant Adeno-Associated Virus (rAAV2-CBSB-hRPE65) Gene Vector to Patients With Retinal Disease Due to RPE65 Mutations (Clinical Trials of Gene Therapy for Leber Congenital Amaurosis)
Who cites it
57 citing papers in PubMed, 101 citations in OpenAlex.
- Improvement and decline in vision with gene therapy in childhood blindness.The New England journal of medicine · 2015Trial
- Pseudo-fovea formation after gene therapy for RPE65-LCA.Investigative ophthalmology & visual science · 2014Trial
- Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics.Proceedings of the National Academy of Sciences of the United States of America · 2008Trial
- Quantitative Markers of Neural Changes, Retinal Thickness, and Responses to Electrical Stimulation in Retinal Degeneration.Ophthalmology science · 2026Article
- Bisretinoid lipofuscin, fundus autofluorescence and retinal disease.Progress in retinal and eye research · 2025Review
- Photoreceptor Disease at Ambiguous Transition Zones in Inherited Retinal Degenerations.Translational vision science & technology · 2025Article
- Glial Cell Responses and Gene Expression Dynamics in Retinas of Treated and Untreated RPE65 Mutant Dogs.Investigative ophthalmology & visual science · 2024Article
- Voretigene neparvovec for inherited retinal dystrophy due to RPE65 mutations: a scoping review of eligibility and treatment challenges from clinical trials to real practice.Eye (London, England) · 2024Article
- Differential gene expression between central and peripheral retinal regions in dogs and comparison with humans.Experimental eye research · 2024Article
- Article
- Clinical Perspective: Treating RPE65-Associated Retinal Dystrophy.Molecular therapy : the journal of the American Society of Gene Therapy · 2021Review
- Inverse correlation between fatty acid transport protein 4 and vision in Leber congenital amaurosis associated with RPE65 mutation.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Progress in treating inherited retinal diseases: Early subretinal gene therapy clinical trials and candidates for future initiatives.Progress in retinal and eye research · 2020Review
- Late presentation of RPE65 retinopathy in three siblings.Documenta ophthalmologica. Advances in ophthalmology · 2020Article
- Retinal Structure in RPE65-Associated Retinal Dystrophy.Investigative ophthalmology & visual science · 2020Article
- Long-Term Structural Outcomes of Late-Stage RPE65 Gene Therapy.Molecular therapy : the journal of the American Society of Gene Therapy · 2020Article
- Voretigene Neparvovec in Retinal Diseases: A Review of the Current Clinical Evidence.Clinical ophthalmology (Auckland, N.Z.) · 2020Review
- Long-Term Follow-Up of Retinal Degenerations Associated WithTranslational vision science & technology · 2019Article
- Seven novel variants expand the spectrum ofMolecular vision · 2019Article
- Article
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
Abstract
purposeTo study the topography of photoreceptor loss early in the course of Leber congenital amaurosis (LCA) caused by RPE65 mutations.
methodsYoung patients with RPE65-LCA (n = 9; ages, 6-17 years) were studied with optical coherence tomography (OCT) in a wide region of central retina. Outer nuclear layer (ONL) thickness was mapped topographically and compared with that in normal subjects and in older patients with RPE65-LCA.
resultsPhotoreceptor layer topography was abnormal in all young patients with RPE65-LCA. Foveal and extrafoveal ONL was reduced in most patients. There were interindividual differences, with ONL thicknesses at most retinal locations ranging from near the detectability limit to a significant fraction of normal. These differences were not clearly related to age. In most patients, there was a thinner ONL inferior to the fovea compared with that in the superior retina. Summary maps obtained by aligning and averaging photoreceptor topography across all young patients showed a relative preservation of ONL in the superior-temporal and temporal pericentral retina. These retinal regions also showed the greatest magnitude of interindividual variation.
conclusionsPhotoreceptor loss in the foveal and extrafoveal retina was prominent, even in the youngest patients studied. Differences in the topography of residual photoreceptors in children with RPE65-LCA suggest that it may be advisable to use individualized ONL mapping to guide the location of subretinal injections for gene therapy and thereby maximize the potential for efficacy.
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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.