ArticleJAMA ophthalmology2013
Visual acuity changes in patients with leber congenital amaurosis and mutations in CEP290.
Article in JAMA ophthalmology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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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.
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Who cites it
34 citing papers in PubMed, 51 citations in OpenAlex.
- Gene Editing forThe New England journal of medicine · 2024Trial
- Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial.Nature medicine · 2022Trial
- Mechanisms of and mitigating strategies for cellular immune responses to CRISPR-associated nucleases in genome editing therapy.Frontiers in medicine · 2026Review
- Hidden Splicing Variants in Inherited Retinal Degeneration: Discovery and Functional Insight.Investigative ophthalmology & visual science · 2025Article
- The Clinical Findings, Pathogenic Variants, and Gene Therapy Qualifications Found in a Leber Congenital Amaurosis Phenotypic Spectrum Patient Cohort.International journal of molecular sciences · 2024Article
- Peripapillary Retinal Nerve Fiber Layer Thickness as a Predictor of Visual Outcomes in Patients with Acute Nonarteritic Anterior Ischemic Optic Neuropathy.Clinical ophthalmology (Auckland, N.Z.) · 2024Article
- Article
- Correlations of Full-Field Stimulus Threshold With Functional and Anatomical Outcome Measurements in Advanced Retinitis Pigmentosa.American journal of ophthalmology · 2023Article
- Non-syndromic Retinal Degeneration Caused by Pathogenic Variants in Joubert Syndrome Genes.Advances in experimental medicine and biology · 2023Article
- Prevalence of Choroidal Abnormalities and Lisch Nodules in Children Meeting Clinical and Molecular Diagnosis of Neurofibromatosis Type 1.Translational vision science & technology · 2022Observational
- Preoperative Peripapillary Retinal Nerve Fiber Layer Thickness as the Prognostic Factor of Postoperative Visual Functions After Endoscopic Transsphenoidal Surgery for Pituitary Adenoma.Clinical ophthalmology (Auckland, N.Z.) · 2022Article
- Serum Vitamin D Levels and Status in Thai Optic Neuritis Subjects: A Case-Control Study.Clinical ophthalmology (Auckland, N.Z.) · 2022Article
- Long-Term Visual Function After Fractionated Stereotactic Radiotherapy for Primary Optic Nerve Sheath Meningioma: A Retrospective Analysis of 34 Subjects.Clinical ophthalmology (Auckland, N.Z.) · 2022Article
- Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10.Investigative ophthalmology & visual science · 2021Article
- Review
- Spectrum of Disease Severity in Nonsyndromic Patients With Mutations in the CEP290 Gene: A Multicentric Longitudinal Study.Investigative ophthalmology & visual science · 2021Article
- LEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS-SEVERE VISION IMPAIRMENT WITH A HIGH UNMET MEDICAL NEED: A Review.Retina (Philadelphia, Pa.) · 2021Review
- Comparison of Early- and Late-Onset NMOSD-Related Optic Neuritis in Thai Patients: Clinical Characteristics and Long-Term Visual Outcomes.Clinical ophthalmology (Auckland, N.Z.) · 2021Article
- Contemporary Management of Complex and Non-Complex Rhegmatogenous Retinal Detachment Due to Giant Retinal Tears.Clinical ophthalmology (Auckland, N.Z.) · 2021Article
- Voretigene Neparvovec and Gene Therapy for Leber's Congenital Amaurosis: Review of Evidence to Date.The application of clinical genetics · 2020Review
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 2 countries.
Funding
Abstract
objectiveTo evaluate changes in visual acuity (VA) over time in patients with Leber congenital amaurosis (LCA) and mutations in the CEP290 gene.
methodsVisual acuity was determined at the initial and most recent visits of 43 patients with LCA and CEP290 mutations. The main outcome measures included the best-corrected VA at the initial and most recent visits, as well as the correlation between age and VA.
resultsAt the initial visit, 14 patients had measurable chart VA in the better-seeing eye, 25 patients had nonmeasurable chart VA, and 4 young patients did not have VA assessed. At the most recent visit, 15 patients had measurable chart VA and 28 had nonmeasurable chart VA. The average interval between the 2 visits was 10.4 years (range, 2-47 years). For patients with measurable chart VA, the median logMAR value at the initial visit (0.75; range, 0.10-2.30) and at the most recent visit (0.70; range, 0.10-2.00) did not differ significantly (P> .05). There was no significant relationship between VA and age.
conclusionsPatients with LCA and CEP290 mutations had a wide spectrum of VA that was not related to age or length of follow-up. Severe VA loss was observed in most, but not all, patients in the first decade. These data will help clinicians provide counseling on VA changes in patients with CEP290 mutations and could be of value for future treatment trials.
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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.