ReviewThe British journal of ophthalmology2017
Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions.
Review in The British journal of ophthalmology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 181 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
181 citing papers in PubMed, 1 synthesis or guideline pooled it, 328 citations in OpenAlex.
- A Systematic Review and Meta-Analyses of Interventional Clinical Trial Studies for Gene Therapies for the Inherited Retinal Degenerations (IRDs).Biomolecules · 2021Pooled it
- Three-Year Safety Results of SAR422459 (EIAV-ABCA4) Gene Therapy in Patients With ABCA4-Associated Stargardt Disease: An Open-Label Dose-Escalation Phase I/IIa Clinical Trial, Cohorts 1-5.American journal of ophthalmology · 2022Trial
- Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial.Nature medicine · 2022Trial
- In Silico identification of a common mobile element insertion in exon 4 of RP1.Scientific reports · 2021Trial
- Results at 5 Years After Gene Therapy for RPE65-Deficient Retinal Dystrophy.Human gene therapy · 2018Trial
- AI-engineered AAV capsid enables intravitreal delivery for the treatment of diverse retinal degenerations.Molecular therapy. Advances · 2026Article
- Nicotinamide Mononucleotide Adenylyltransferase 1 and NADMetabolites · 2026Review
- Whole exome sequencing identifies three novel variants and establishes the molecular diagnosis of ATP6V0A4-related distal renal tubular acidosis in a lebanese infant.Molecular biology reports · 2026Article
- The co-occurrence of homozygous variants in GUCY2D and MYO7A in Leber congenital amaurosis associated with deafness: clinical, molecular, and in silico investigation.Molecular biology reports · 2026Article
- Halofantrine protects photoreceptors in multiple models of retinal degeneration.Research square · 2026Article
- 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
- Novel compound heterozygous variants in NMNAT1 associated with leber congenital amaurosis: clinical and mutational profiles.Molecular biology reports · 2026Article
- Systemic and Ocular Manifestations of a Ciliopathy: A Case Report of Renal-Retinal Involvement in Senior-Loken Syndrome.Journal of clinical medicine · 2026Article
- Dual molecular diagnosis of CEP290 and GLI3 mutations identified in an infant with leber congenital amaurosis and postaxial polydactyly, a Bardet-Biedl syndrome phenocopy.BMC ophthalmology · 2026Article
- Diagnostic Role of Chromatic Full-Field Stimulus Test in Rod-Cone Versus Cone Dystrophies.Biomedicines · 2026Article
- Novel Genotype-Phenotype Correlations inOphthalmology science · 2026Article
- Advancements in CRISPR-based therapies for ocular pathologies: from disease mechanisms to intervention strategies.Theranostics · 2026Review
- Article
- Sustained improvement in dark-adapted sensitivity but not BCVA after voretigene neparvovec treatment in a mainland Chinese child with biallelicFrontiers in pharmacology · 2026Article
- Restoring Sight: The Journey of AIPL1 from Discovery to Therapy.International journal of molecular sciences · 2025Review
121 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issuedCorrection:2019
Authors and funding
4 authors at 4 institutions in 2 countries.
Funding
Abstract
Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EOSRD) are both genetically and phenotypically heterogeneous, and characterised clinically by severe congenital/early infancy visual loss, nystagmus, amaurotic pupils and markedly reduced/absent full-field electroretinograms. The vast genetic heterogeneity of inherited retinal disease has been established over the last 10 - 20 years, with disease-causing variants identified in 25 genes to date associated with LCA/EOSRD, accounting for 70-80% of cases, with thereby more genes yet to be identified. There is now far greater understanding of the structural and functional associations seen in the various LCA/EOSRD genotypes. Subsequent development/characterisation of LCA/EOSRD animal models has shed light on the underlying pathogenesis and allowed the demonstration of successful rescue with gene replacement therapy and pharmacological intervention in multiple models. These advancements have culminated in more than 12 completed, ongoing and anticipated phase I/II and phase III gene therapy and pharmacological human clinical trials. This review describes the clinical and genetic characteristics of LCA/EOSRD and the differential diagnoses to be considered. We discuss in further detail the diagnostic clinical features, pathophysiology, animal models and human treatment studies and trials, in the more common genetic subtypes and/or those closest to intervention.
Indexed as
Identifiers
What OpenQuestion holds
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.