Paper · 20006823

Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions.

Chung DC and 1 other. J AAPOS, 2009. Cited by 87 papers, by iCite.

11 sourcespapers-2026-11-12-0.1.0

Cite this record

ConductScience Library. Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions. Papers, record 20006823. Release papers-2026-11-12-0.1.0, 12 Nov 2026. https://conductscience.org/library/papers/20006823

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Paper

PubMed's record of the paper, with iCite's citation figures. No abstract is shown.

Title: Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions.; PubMed
Journal: J AAPOS; PubMed
Year: 2009; PubMed
Publication types: Journal Article, Review; PubMed
PubMed: https://pubmed.ncbi.nlm.nih.gov/20006823/; PubMed
DOI: https://doi.org/10.1016/j.jaapos.2009.10.004; PubMed
The journal: https://conductscience.org/library/journal-index/9710011; PubMed
Citations, by iCite: 87; iCite
Relative citation ratio, by iCite: 2.23; iCite
Revised in PubMed: 2026-01-28; PubMed

Authors2

The authors in the order PubMed's record lists them, with the ORCID iDs it states.

Order	Author	Forename	Kind	ORCID iD
1	Chung DC	Daniel C
2	Traboulsi EI	Elias I

Source PubMed

Topics9

NLM's MeSH indexing of the paper, its major topics first.

MeSH term	Major
Carrier Proteins	Major topic
Eye Proteins	Major topic
Genetic Therapy	Major topic
Leber Congenital Amaurosis	Major topic
Clinical Trials as Topic
Genotype
Humans
cis-trans-Isomerases
Retinoid Isomerohydrolase

Source PubMed

Grants0

Each grant PubMed's record writes, matched to the NIH project NIH's grant and paper links name for this paper, and each of those links the record does not write.

None in this release.

Trials0

The trials whose ClinicalTrials.gov record lists the paper, and the trial numbers the paper's PubMed record names.

None in this release.

Comments and corrections0

PubMed's comments and corrections, NLM's own indexing: retractions first, then expressions of concern, errata and updates, and comments last.

None in this release.

References0

The papers the reference list in PubMed's record names, those in our copy of PubMed, in the list's order.

None in this release.

Cited by52

The papers in our copy of PubMed whose reference list names this one, newest first. iCite, which reads more sources, counts 87 citations.

PMID	Title	Journal	Year	In Papers	Source
41,465,493	Restoring Sight: The Journey of AIPL1 from Discovery to Therapy.	Int J Mol Sci	2025	https://conductscience.org/library/papers/41465493	PubMed
40,879,297	Determination of the Population Frequency of Monoallelic and Biallelic Predicted Pathogenic RPE65 Variants in a Normal Database.	Invest Ophthalmol Vis Sci	2025	https://conductscience.org/library/papers/40879297	PubMed
39,728,691	Mettl3-Mediated m6A Modification is Essential for Visual Function and Retinal Photoreceptor Survival.	Invest Ophthalmol Vis Sci	2024	https://conductscience.org/library/papers/39728691	PubMed
38,522,724	IQCB1 (NPHP5)-Retinopathy: Clinical and Genetic Characterization and Natural History.	Am J Ophthalmol	2024	https://conductscience.org/library/papers/38522724	PubMed
38,397,227	Frameshift Variant in AMPD2 in Cirneco dell'Etna Dogs with Retinopathy and Tremors.	Genes (Basel)	2024	https://conductscience.org/library/papers/38397227	PubMed
37,644,229	Ocular manifestations of renal ciliopathies.	Pediatr Nephrol	2024	https://conductscience.org/library/papers/37644229	PubMed
36,877,952	Therapeutic applications of CRISPR/Cas9 gene editing technology for the treatment of ocular diseases.	FEBS J	2023	https://conductscience.org/library/papers/36877952	PubMed
36,595,661	Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosis.	Am J Med Genet A	2023	https://conductscience.org/library/papers/36595661	PubMed
35,685,379	Ocular Gene Therapy: A Literature Review with Special Focus on Immune and Inflammatory Responses.	Clin Ophthalmol	2022	https://conductscience.org/library/papers/35685379	PubMed
35,551,639	Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.	Orphanet J Rare Dis	2022	https://conductscience.org/library/papers/35551639	PubMed

1 to 10 of 52

See all 52 cited by

Genes1

The genes the Gene search release ties to the paper: Swiss-Prot's references first, then PubTator's text mining.

Gene	NCBI Gene ID	Linked by	In Genes
RPE65	6,121	PubTator's text mining	https://conductscience.org/library/genes/6121

Source NCBI Gene

Drugs0

The drugs whose trials, in the Pipelines release, list the paper.

None in this release.

Data0

The data bank entries PubMed's record names. Trial numbers are under Trials.

None in this release.

Data dates

The date of each source this release read.

PubMed: 2026-11-06; PubMed
iCite: 2026-11-05; iCite
PMC's ID file: 2026-11-05; PMC's ID file
NIH RePORTER's grant and paper links: 2026-11-01; NIH RePORTER's grant and paper links
Trials: 2026-11-12
Gene search: 2026-11-11
Pipelines: 2026-09-18

Sources 11

ChEMBL, through Open TargetsCC BY-SA 3.0
ClinicalTrials.govNo license stated
HGNCCC0
iCiteCC BY 4.0
NCBI GenePublic domain (US government)
NIH RePORTER's grant and paper linksPublic domain
Open TargetsCC0 1.0
PMC's ID filePublic domain (US government)
PubMedNLM's terms
PubTator 3Public domain
UniProtCC BY 4.0

Each source's terms

ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
ClinicalTrials.govnone stated
HGNCCC0: https://www.genenames.org/about/license/
iCiteCC BY 4.0
NCBI GeneNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
NIH RePORTER's grant and paper linksPublic domain (NIH RePORTER)
Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
PMC's ID fileNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
PubMedNLM's terms
PubTator 3Public domain
UniProtCC BY 4.0. UniProt's licence file: "All databases and documents in the UniProt FTP directory may be copied and redistributed freely, without advance permission, provided that this copyright statement is reproduced with each copy." UniProt asks that users cite its latest paper: The UniProt Consortium, UniProt: the Universal Protein Knowledgebase in 2025, Nucleic Acids Research 53:D609-D617, https://doi.org/10.1093/nar/gkae1010. Read on 9 Nov 2026 at https://www.uniprot.org/help/license

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

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