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Disease · MONDO_0019118

inherited retinal dystrophy

6 sourcesdiseases-2026-09-18-0.1.0

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ConductScience Library. inherited retinal dystrophy. Diseases, record MONDO_0019118. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0019118

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Disease

Names and IDs as Open Targets gives them. Its IDs in MeSH, Orphanet, the Disease Ontology and the NCI Thesaurus are those Open Targets states for it.

Name
inherited retinal dystrophy
Open Targets
Open Targets ID
MONDO_0019118
Open Targets
Other names
Breakdown of light-sensitive cells in back of eye, Colobomatous and areolar dystrophy, familial retinal dystrophy, genetic retinal dystrophy, hereditary retinal degeneration, hereditary retinal dystrophy, retinal degeneration, retinal dystrophy
Open Targets
Disease Ontology
DOID:8500
Disease Ontology
Disease Ontology
DOID:8501
Disease Ontology
MeSH
D058499
MeSH
NCI Thesaurus
C35194
NCI Thesaurus
NCI Thesaurus
C35625
NCI Thesaurus
Orphanet
ORPHA:71862
Orphanet
Highest stage of its drugs
Phase 3, for 1 of its 6 drugs, from ClinicalTrials.gov
Open Targets

Drugs6

The drugs Open Targets' clinical reports study for the disease, the highest stage first, then the most trial reports. The stage is Open Targets', the highest any of its sources reports for the pair, and each row names the sources that report it.

DrugChEMBL IDTypeOpen Targets' stageStage reported byReportsOf them trialsTrials shown hereSource
VORETIGENE NEPARVOVECCHEMBL3707275GenePhase 3ClinicalTrials.gov222Drugs and targets
ACETAZOLAMIDECHEMBL20Small moleculePhase 2ClinicalTrials.gov111Drugs and targets
BRINZOLAMIDECHEMBL220491Small moleculePhase 2ClinicalTrials.gov111Drugs and targets
RANIBIZUMABCHEMBL1201825AntibodyPhase 2ClinicalTrials.gov111Drugs and targets
GILDEURETINOLCHEMBL5314606Small moleculeUnknownUSAN100Drugs and targets
GILDEURETINOL ACETATECHEMBL5314607Small moleculeUnknownUSAN100Drugs and targets

Targets6

The targets ChEMBL's mechanism records give for the disease's drugs, through Open Targets, the most drugs first. A mechanism record says what a drug acts on, not that the target causes the disease.

TargetProteinIts drugs that act on itMechanismsHighest stage of those drugsGene in GenesSource
CA2Carbonic anhydrase 22Carbonic anhydrase II inhibitorPhase 2https://conductscience.org/library/genes/760Drugs and targets
CA1Carbonic anhydrase 11Carbonic anhydrase I inhibitorPhase 2https://conductscience.org/library/genes/759Drugs and targets
CA12Carbonic anhydrase 121Carbonic anhydrase XII inhibitorPhase 2https://conductscience.org/library/genes/771Drugs and targets
CA4Carbonic anhydrase 41Carbonic anhydrase IV inhibitorPhase 2https://conductscience.org/library/genes/762Drugs and targets
RPE65Retinoid isomerohydrolase1Retinoid isomerohydrolase exogenous genePhase 3https://conductscience.org/library/genes/6121Drugs and targets
VEGFAVascular endothelial growth factor A, long form1Vascular endothelial growth factor A inhibitorPhase 2https://conductscience.org/library/genes/7422Drugs and targets

Trials3

Trials an Open Targets clinical report links to the disease, posted results first, then the largest. A trial is shown when the release's checks confirm its link to the disease and Drugs and targets shows its link to one of the disease's drugs.

TrialTitlePhaseParticipantsResults first postedConditionsDrugsLinked bySource
NCT00999609Safety and Efficacy Study in Subjects With Leber Congenital AmaurosisPhase 3312018-03-26Inherited Retinal Dystrophy Due to RPE65 Mutations, Leber Congenital AmaurosisVORETIGENE NEPARVOVECIts record names the diseaseClinicalTrials.gov
NCT03597399A Patient Registry Study for Patients Treated With Voretigene Neparvovec in US87Confirmed Biallelic RPE65 Mutation-associated Retinal DystrophyVORETIGENE NEPARVOVECIts record names the diseaseClinicalTrials.gov
NCT03763227Intravitreal Ranibizumab (Lucentis®) in the Treatment of Non-leaking Macular Cysts in Retinal DystrophyPhase 213Retinal DystrophiesACETAZOLAMIDE, BRINZOLAMIDE, RANIBIZUMABIts record names the diseaseClinicalTrials.gov

Comparisons in its trials2

Comparisons Trial comparisons calculated in the trials shown here, most participants first. A comparison in one of these trials does not always compare a treatment for the disease, so read the two groups.

ComparisonGroup 1, with the outcomeGroup 2, with the outcomeParticipantsTrialSource
Intervention vs Control: deaths from any cause0 of 210 of 1031NCT00999609Trial comparisons
Intervention vs Control: serious adverse events2 of 200 of 929NCT00999609Trial comparisons

Papers from its trials6

The papers the trials shown here list on ClinicalTrials.gov as their results (RESULT) or as drawn from them (DERIVED), results first, newest first.

PMIDListed asTrials listing itSource
28712537RESULT1PubMed
22323828RESULT1PubMed
21606598RESULT1PubMed
19953081RESULT1PubMed
38254722DERIVED1PubMed
35765055DERIVED1PubMed

Data dates

The date of each source this release read.

Open Targets
2026-09-18
Open Targets
Drug links and their checks, from Drugs and targets
2026-09-18
Drugs and targets
ClinicalTrials.gov, from Trials
2026-11-12
Trials
Comparisons, from Trial comparisons
2026-03-23
Trial comparisons
PubMed, for the checks
2026-11-06
PubMed
MeSH, for the checks
2026-11-10
MeSH

Sources 6

  • ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
  • ChEMBL, through Open TargetsCC BY-SA 3.0
  • ClinicalTrials.govNo license stated
  • NLM's MeSHNLM's terms
  • Open TargetsCC0 1.0
  • PubMedNLM's terms
Each source's terms
  • ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
  • 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
  • NLM's MeSHNLM's
  • 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
  • PubMedNLM's terms

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

For software

Read this disease from software.

The record and each of its lists are JSON, twenty rows a page. No key.

GET https://conductscience.org/api/diseases/v1/MONDO_0019118

GET https://conductscience.org/api/diseases/v1/MONDO_0019118/drugs

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