| Concept | Identifier system | Identifier | Evidence/notes | Source (with year and URL) |
|---|---|---|---|---|
| RPE65-related recessive retinopathy | MONDO | MONDO:0100368 | OpenTargets lists disease-target association for **RPE65**; useful umbrella disease mapping term for biallelic RPE65 disease (pqac-00000000) | OpenTargets, accessed in this session: https://platform.opentargets.org |
| RPE65-related dominant retinopathy | MONDO | MONDO:0100452 | OpenTargets also lists a distinct dominant entity; relevant for differential classification because most therapeutic literature here concerns **recessive/biallelic** disease (pqac-00000000) | OpenTargets, accessed in this session: https://platform.opentargets.org |
| Leber congenital amaurosis | MONDO | MONDO:0018998 | OpenTargets lists LCA as associated with **RPE65**; many RPE65 cases present clinically as LCA/LCA2 (pqac-00000000, pqac-00000008) | OpenTargets; Chiu et al. 2021, https://doi.org/10.3390/ijms22094534 |
| Leber congenital amaurosis | OMIM | OMIM:204100 | Russian cohort review explicitly states that biallelic **RPE65** variants cause LCA (OMIM 204100) (pqac-00000003) | Stepanova et al. 2023, https://doi.org/10.3390/genes14112056 |
| Severe early-onset retinitis pigmentosa / RP20 | OMIM | OMIM:613794 | Same review explicitly maps severe early-onset RP due to **RPE65** to RP20 (OMIM 613794) (pqac-00000003) | Stepanova et al. 2023, https://doi.org/10.3390/genes14112056 |
| LCA type 2 / LCA2 | Disease subtype term | Not explicitly identified in evidence by OMIM/MONDO | Review states “LCA type 2 (LCA2) is caused by the mutation in the RPE65 gene on chromosome 1p31” (pqac-00000008) | Chiu et al. 2021, https://doi.org/10.3390/ijms22094534 |
| RPE65-associated retinal dystrophy | Synonym / disease label | — | Used in Korean consensus; encompasses LCA, EOSRD, and early/severe RP phenotypes due to RPE65 mutations (pqac-00000001) | Han et al. 2023, https://doi.org/10.3341/kjo.2023.0008 |
| RPE65-mediated inherited retinal dystrophy | Synonym / disease label | — | Used in treatment and registry literature, especially for voretigene neparvovec eligibility and outcomes (pqac-00000002, pqac-00000013) | Testa et al. 2024, https://doi.org/10.1038/s41433-024-03065-6; Fischer et al. 2024, https://doi.org/10.3390/biom14010122 |
| RPE65-associated retinopathy / retinopathies | Synonym / disease label | — | Used in natural history and molecular epidemiology studies for biallelic RPE65 disease spectrum (pqac-00000003, pqac-00000007) | Stepanova et al. 2023, https://doi.org/10.3390/genes14112056; Testa et al. 2022, https://doi.org/10.1167/iovs.63.2.13 |
| Early-onset severe retinal dystrophy | Phenotypic classification term | EOSRD | Frequently used clinical classification overlapping with LCA in RPE65 disease (pqac-00000001, pqac-00000007) | Han et al. 2023, https://doi.org/10.3341/kjo.2023.0008; Testa et al. 2022, https://doi.org/10.1167/iovs.63.2.13 |
| Safety and Efficacy Study in Subjects With Leber Congenital Amaurosis | ClinicalTrials.gov | NCT00999609 | Pivotal phase 3 voretigene neparvovec study; trial excerpt specifies molecular confirmation of RPE65 mutations and viable retinal cells (pqac-00000006) | ClinicalTrials.gov, https://clinicaltrials.gov/study/NCT00999609 |
| Safety Study in Subjects With Leber Congenital Amaurosis | ClinicalTrials.gov | NCT00516477 | Phase 1 RPE65 gene therapy study referenced in trial search results (pqac-00000000) | ClinicalTrials.gov, https://clinicaltrials.gov/study/NCT00516477 |
| Phase 1 Follow-on Study of AAV2-hRPE65v2 Vector in Subjects With LCA2 | ClinicalTrials.gov | NCT01208389 | Follow-on bilateral/second-eye study after initial phase 1 treatment (pqac-00000000) | ClinicalTrials.gov, https://clinicaltrials.gov/study/NCT01208389 |
| Long-term Follow-up Study in Subjects Who Received Voretigene Neparvovec-rzyl | ClinicalTrials.gov | NCT03602820 | Long-term observational follow-up after VN treatment (pqac-00000000) | ClinicalTrials.gov, https://clinicaltrials.gov/study/NCT03602820 |
| Patient Registry Study for Patients Treated With Voretigene Neparvovec in US | ClinicalTrials.gov | NCT03597399 | US registry-based observational study of treated patients (pqac-00000000) | ClinicalTrials.gov, https://clinicaltrials.gov/study/NCT03597399 |
| Study of Efficacy and Safety of Voretigene Neparvovec in Japanese Patients With Biallelic RPE65 Mutation-associated Retinal Dystrophy | ClinicalTrials.gov | NCT04516369 | Japanese phase 3 study of VN in genetically confirmed biallelic RPE65 disease (pqac-00000000) | ClinicalTrials.gov, https://clinicaltrials.gov/study/NCT04516369 |


*Table: This table compiles the main disease names and formal identifiers explicitly present in the retrieved evidence for RPE65-related retinopathy. It is useful for harmonizing terminology across natural history studies, treatment trials, and ontology-based knowledge bases.*