| Claim/Metric | Value | Population/Study | Publication (year, journal) | URL/DOI |
|---|---:|---|---|---|
| Global IRD prevalence | ~1 in 2,000 to 1 in 4,000 | General/global IRD estimates (pqac-00000001, pqac-00000009) | Munir et al. 2024, *BMC Ophthalmology* | https://doi.org/10.1186/s12886-024-03319-7 |
| RP prevalence | ~1:4,000 worldwide | Retinitis pigmentosa, global estimate (pqac-00000004) | Murro et al. 2023, *Orphanet Journal of Rare Diseases* | https://doi.org/10.1186/s13023-023-02798-z |
| LCA prevalence | ~1/30,000 to 1/81,000; ~5% of IRDs | Leber congenital amaurosis (pqac-00000004, pqac-00000010) | Murro et al. 2023, *Orphanet Journal of Rare Diseases*; Malvasi et al. 2023, *IJMS* | https://doi.org/10.1186/s13023-023-02798-z; https://doi.org/10.3390/ijms241813756 |
| Stargardt disease prevalence | ~1 in 8,000–10,000 | STGD1 global estimate (pqac-00000014) | Munir et al. 2024, *BMC Ophthalmology* | https://doi.org/10.1186/s12886-024-03319-7 |
| Portugal IRD prevalence | 0.031% (~1 in 3,000) | Nationwide Portuguese IRD-PT survey, 26 HCP respondents (pqac-00000012, pqac-00000013) | Marques et al. 2024, *Scientific Reports* | https://doi.org/10.1038/s41598-024-72589-4 |
| Portugal biallelic RPE65 prevalence | 0.00031% (~1 in 300,000) | Nationwide Portuguese IRD-PT survey (pqac-00000013, pqac-00000040) | Marques et al. 2024, *Scientific Reports* | https://doi.org/10.1038/s41598-024-72589-4 |
| Pakistan consanguinity among IRD index cases | ~70% | Pakistani IRD literature review, 1999–2023 (pqac-00000009, pqac-00000011, pqac-00000015) | Munir et al. 2024, *BMC Ophthalmology* | https://doi.org/10.1186/s12886-024-03319-7 |
| Pakistan recessive inheritance proportion | >95% recessive; ~88.8% homozygous variants | Pakistani IRD literature review (pqac-00000009) | Munir et al. 2024, *BMC Ophthalmology* | https://doi.org/10.1186/s12886-024-03319-7 |
| Broad NGS panel diagnostic yield | 64.3% | 1,005 inherited eye disease patients in Poland, 2020–2023 (pqac-00000021) | Matczyńska et al. 2024, *Biomedicines* | https://doi.org/10.3390/biomedicines12061355 |
| 319-gene panel diagnostic yield | 68.5% molecular diagnosis; 53.9% resolved | 425 Taiwanese IRD probands (pqac-00000021, pqac-00000024) | Kao et al. 2024, *NPJ Genomic Medicine* | https://doi.org/10.1038/s41525-023-00388-3 |
| smMIPs panel diagnostic yield | 56% | 1,192 RP/LCA probands, international cohort (pqac-00000023) | Panneman et al. 2023, *Frontiers in Cell and Developmental Biology* | https://doi.org/10.3389/fcell.2023.1112270 |
| Exome sequencing initial diagnostic yield | 62.9% | 264 Korean IRD patients before reanalysis (pqac-00000023) | Surl et al. 2024, *JAMA Network Open* | https://doi.org/10.1001/jamanetworkopen.2024.14198 |
| Exome reanalysis increment | +8.3 percentage points; final yield ~71.2% | 264 Korean IRD patients, clinician-driven ES reanalysis (pqac-00000023) | Surl et al. 2024, *JAMA Network Open* | https://doi.org/10.1001/jamanetworkopen.2024.14198 |
| Genome sequencing yield in routine care | 57.4% definite diagnosis; non-coding/SV variants were 12.7% of observed variants | 1,000 inherited eye disease probands (IRD/ION), Germany (pqac-00000020) | Weisschuh et al. 2024, *Journal of Medical Genetics* | https://doi.org/10.1136/jmg-2023-109470 |
| WGS added yield in previously unsolved IRDs | 13% additional diagnoses; 7% SV only, 4% SNV+SV, 2% intronic | 271 unresolved IRD patients after prior panel screening (pqac-00000017) | Liu et al. 2024, *NPJ Genomic Medicine* | https://doi.org/10.1038/s41525-024-00391-2 |
| WGS incremental value after prior WES | 9.6% added diagnostic value (5/66); overall WGS diagnosis 28.8% (19/66) | 66 Swiss index patients unsolved after WES (pqac-00000022, pqac-00000019) | Maggi et al. 2024, *IJMS* | https://doi.org/10.3390/ijms25126540 |
| Gene therapy: AAV8-RLBP1 | NCT03374657; n=12; primary endpoints: ocular/systemic safety and dark adaptation recovery; significant improvement in dark adaptation across all dose cohorts; 108 AEs (65 ocular, 43 non-ocular); dose-dependent inflammation responsive to corticosteroids; focal RPE atrophy was dose-limiting toxicity; 1 study-drug–related severe vision loss SAE | Phase 1/2, biallelic RLBP1-associated retinal dystrophy (pqac-00000042) | Kvanta et al. 2024, *Nature Communications* | https://doi.org/10.1038/s41467-024-51575-4 |
| Gene therapy: rAAV2/8-hCYP4V2 (ZVS101e) | NCT04722107; n=12; endpoints: safety, BCVA, mfERG, microperimetry, VFQ-25; BCVA improved in 77.8% at day 180 (mean +9.0±10.8 letters, p=0.021) and 80% at day 365 (mean +11.0±10.6 letters, p=0.125, 5 eyes assessed); 73 TEAEs, 98.6% mild/moderate; no treatment-related SAEs or immune toxicities | Open-label exploratory trial in Bietti crystalline corneoretinal dystrophy (pqac-00000041) | Wang et al. 2024, *Signal Transduction and Targeted Therapy* | https://doi.org/10.1038/s41392-024-01806-3 |


*Table: This table compacts high-value evidence for inherited retinal dystrophy across epidemiology, molecular diagnostic yield, and recent interventional trials. It is useful for quickly extracting population-level figures, comparing testing strategies, and summarizing the most recent human gene therapy outcome data.*