ArticleGraefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie2005
Longitudinal and cross-sectional study of patients with early-onset severe retinal dystrophy associated with RPE65 mutations.
Article in Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
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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.
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Who cites it
41 citing papers in PubMed, 89 citations in OpenAlex.
- Pseudo-fovea formation after gene therapy for RPE65-LCA.Investigative ophthalmology & visual science · 2014Trial
- Voretigene Neparvovec Gene Therapy in Clinical Practice: A 12-Month, Single-Center, In-Depth Analysis of Beneficial and Adverse Drug Effects.Translational vision science & technology · 2026Article
- Chorioretinal Atrophy after Voretigene Neparvovec Therapy in <italic>RPE65</italic> Mutation-Associated Inherited Retinal Disease: Longitudinal Characterization in Multimodal Imaging.Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde · 2026Article
- Long-term experience with gene augmentation therapy in patients with inherited retinal disease associated with biallelic mutations inMedizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2025Article
- Deep Learning-Based SD-OCT Layer Segmentation Quantifies Outer Retina Changes in Patients With Biallelic RPE65 Mutations Undergoing Gene Therapy.Investigative ophthalmology & visual science · 2025Article
- Cross-Sectional Analysis of Outer Retinal Tubulation in Inherited Retinal Diseases: A Multicenter Study.American journal of ophthalmology · 2025Article
- 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
- Voretigene Neparvovec for the Treatment of RPE65-associated Retinal Dystrophy: Consensus and Recommendations from the Korea RPE65-IRD Consensus Paper Committee.Korean journal of ophthalmology : KJO · 2023Article
- Frequency ofTurkish journal of ophthalmology · 2022Article
- RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study.Investigative ophthalmology & visual science · 2022Article
- Clinical Features and Natural History in a Cohort of Chinese Patients with RPE65-Associated Inherited Retinal Dystrophy.Journal of clinical medicine · 2021Article
- The Next Generation of Molecular and Cellular Therapeutics for Inherited Retinal Disease.International journal of molecular sciences · 2021Review
- Perspectives of people with inherited retinal diseases on ocular gene therapy in Australia: protocol for a national survey.BMJ open · 2021Article
- Clinical Perspective: Treating RPE65-Associated Retinal Dystrophy.Molecular therapy : the journal of the American Society of Gene Therapy · 2021Review
- Retinal Structure in RPE65-Associated Retinal Dystrophy.Investigative ophthalmology & visual science · 2020Article
- Statement of the DOG, the RG, and the BVA on the therapeutic use of voretigene neparvovec (Luxturna™) in ophthalmology. English version : January 2019.Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft · 2020Review
- Long-Term Follow-Up of Retinal Degenerations Associated WithTranslational vision science & technology · 2019Article
- [Statement of the German Society of Ophthalmology (DOG), the German Retina Society (RG) and the Professional Association of German Ophthalmologists (BVA) on the therapeutic use of voretigene neparvovec-rzyl (Luxturna™) in ophthalmology : Situation January 2019].Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft · 2019Review
- The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene.American journal of ophthalmology · 2019Article
- Retained Plasticity and Substantial Recovery of Rod-Mediated Visual Acuity at the Visual Cortex in Blind Adult Mice with Retinal Dystrophy.Molecular therapy : the journal of the American Society of Gene Therapy · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo quantify retinal function longitudinally and cross-sectionally in patients with autosomal-recessive early-onset severe retinal dystrophy (EOSRD) associated with RPE65 mutations. SUBJECTS AND
methodsThe ocular phenotype was characterized in four children from three families up to the second decade of life, and in three siblings from one family aged 43-54 years carrying compound heterozygous or homozygous mutations in RPE65. Standard clinical examination included colour vision testing, fundus photography and Goldmann visual fields (GVF). Full-field ERGs (in all) and multifocal ERGs (in two patients) were also recorded. Visual performance and fundus appearance were compared to literature data.
resultsIn childhood, visual acuity (VA) ranged from 0.1 to 0.3, and GVF for target V4 was well preserved. VA and GVF were measurable in only one of the three adult siblings. Nystagmus was present in two of four children and two of three adults. Photophobia was absent in childhood and developed in adulthood. Funduscopic changes were discrete during the first decade of life in three of four children; one patient had clear macular changes already at age 5 years. All three adult siblings had distinct retinal changes including the macula. Bone spicules were not a feature. Residual colour vision was present in all patients with measurable VA. Rod ERGs were absent at any age; cone ERGs were detectable in early childhood. To date, VA data have been reported in 51 patients, visual fields in 29 patients, and a detailed fundus description in 34 patients. For all three parameters, data were comparable to the results in our patient cohort.
conclusionIn childhood, patients with RPE65 mutations have better visual functions than typically seen in Leber congenital amaurosis. The phenotype shows a common progressive pattern with intrafamilial and interfamilial variation. The data suggest a preserved retinal morphology at young ages, arguing for vision-restoring gene therapy trials in childhood.
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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.