| Domain | Finding (with numbers) | Evidence type | Source (first author year journal) | URL/DOI |
|---|---|---|---|---|
| Epidemiology | General RP prevalence ≈ 1 in 3,500; autosomal recessive RP accounts for >50% of RP cases; MERTK causes early-onset severe arRP (pqac-00000003, pqac-00000000) | Human clinical / disease-model context | Lukovic 2015 *Scientific Reports* | https://doi.org/10.1038/srep12910 |
| Epidemiology | MERTK mutations reported in **<1%** of RP patients in some consanguineous Middle East/Saudi/Spain/Morocco cohorts; **~2%** in a French cohort; a Faroe Islands founder deletion accounts for **~30%** of RP cases there (pqac-00000002) | Human cohort / review synthesis | Malvasi 2023 *Int J Mol Sci* | https://doi.org/10.3390/ijms241813756 |
| Diagnostics | In a **25-patient** MERTK cohort, visual fields were constricted to **20 central degrees or below in 92%**; color vision abnormal in **24/25**; full-field and multifocal ERG responses were non-detectable; FAF showed abnormal macular patterns (**14/25** foveal increase, **11/25** foveal loss) (pqac-00000013) | Human cohort | Audo 2018 *Human Mutation* | https://doi.org/10.1002/humu.23431 |
| Diagnostics | In a **230-patient** macular/cone-cone rod dystrophy cohort, **15** had reduced qAF8 and **3/15 (20%)** of that reduced-qAF subgroup had MERTK mutations (pqac-00000004) | Human cohort | Gliem 2020 *Ophthalmology Retina* | https://doi.org/10.1016/j.oret.2020.02.009 |
| Diagnostics | A longitudinal MERTK case in a **251-patient** MD/CCRD series progressed from **20/20–20/25** vision to **20/2000** in one eye over **2 years**, with progressive FAF/OCT abnormalities (pqac-00000014) | Human case within cohort | Birtel 2018 *Scientific Reports* | https://doi.org/10.1038/s41598-018-22096-0 |
| Treatment | Phase I subretinal gene therapy trial **NCT01482195** enrolled **6 participants**; one eye treated; follow-up to **2 years** with extension to **5 years**; endpoints included BCVA, FST, OCT thickness, safety labs/antibodies (pqac-00000016) | Clinical trial | ClinicalTrials.gov 2011 NCT01482195 | https://clinicaltrials.gov/study/NCT01482195 |
| Treatment | Reviews of **NCT01482195** report good tolerability/no serious ocular or systemic AEs, **3/6** participants with BCVA improvement, but only **1/6** maintained visual gain at **2 years** (pqac-00000017, pqac-00000018, pqac-00000019) | Clinical trial / review synthesis | Nuzbrokh 2021 *Ann Transl Med*; Malvasi 2023 *Int J Mol Sci*; Vingolo 2024 *Medicina* | https://doi.org/10.21037/atm-20-4726 ; https://doi.org/10.3390/ijms241813756 ; https://doi.org/10.3390/medicina60010189 |
| Treatment | In MERTK-nonsense iPSC-RPE, PTC124 restored phagocytic activity to **~12% of control** (**0.22 to 3.22** internalized POS per **0.01 mm²**, **p=0.002**); G418 restored detectable protein but not function (pqac-00000020, pqac-00000015) | In vitro human iPSC model | Ramsden 2017 *Scientific Reports* | https://doi.org/10.1038/s41598-017-00142-7 |
| Mechanism | In human stem-cell RPE, wild-type cells ensheathed POS by **3 h** and fragmented them by **5 h**; functional RPE fragmented POS in **~52 min** with subsequent internalization in **~30 min**; these steps were abolished in MERTK-deficient cells (pqac-00000011, pqac-00000006) | In vitro human stem-cell model | Almedawar 2020 *Stem Cell Reports* | https://doi.org/10.1016/j.stemcr.2020.02.004 |
| Mechanism | Circadian regulation: MerTK function peaks about **2 h after light onset**; Gas6 and Protein S show time-varying bioavailability and cooperative control of the daily phagocytic burst (pqac-00000007) | Mechanistic in vivo/in vitro | Parinot 2024 *Int J Mol Sci* | https://doi.org/10.3390/ijms25126630 |
| Models | RCS rat carries an rdy Mertk loss-of-function allele with translation termination at **codon 20**; adenoviral Mertk delivery restored phagocytic competence of cultured RCS RPE cells to wild-type levels (pqac-00000022) | Animal / ex vivo rescue | Feng 2002 *J Biol Chem* | https://doi.org/10.1074/jbc.m107876200 |
| Models | Preclinical rescue in RCS rat: adenoviral/AAV MERTK transfer improved histology/function, but photoreceptor survival extension was transient, reported for only **~12 weeks** despite ongoing transgene expression (pqac-00000021) | Animal / preclinical gene therapy | Petrs-Silva 2013 *Clinical Ophthalmology* | https://doi.org/10.2147/OPTH.S38041 |


*Table: This table compiles the main quantitative data available for MERTK-related retinopathy across epidemiology, diagnostics, treatment, mechanism, and model systems. It is useful as a compact evidence summary for building a disease knowledge base entry.*