Table 2 of
de Freitas Cenachi, Mol Vis 2025; 31:526-537. Table 2 of
de Freitas Cenachi, Mol Vis 2025; 31:526-537.
Table 2. Selected previous studies in non- syndromic retinitis pigmentosa cohorts.
| Study Author(s) by year | Country | Molecularly tested (N) | Molecularly solved cohort (N) | Different disease-causing genes | Most frequently implicated genes |
|---|---|---|---|---|---|
| Current study, 2025 | Brazil | 55 individuals/36 families | 71% (39/55) individuals | 19 | RHO (19%), RPGR (16%), USH2A (9%), EYS (7%) |
| Costa et al., 2017 | Brazil | 16 individuals | 56% (9/16) individuals | 8 | RPGR (22%), RHO (11%), CRB1 (11%), PRPF31 (11%) |
| Motta et al., 2018 | Brazil | 191 individuals | 63% (121/191) individuals | 31 | RPGR (16%), EYS (13%), USH2A (9%), CERKL (6%), RP1 (76%) |
| Chukwunalu et al., 2025 | Portugal | 352 individuals/268 families | 57% (202/352) individuals | 40 | EYS (28.7%), RPGR (7.9%), USH2A (6.4%), RPE65 (5.9%), RHO (5.5%) |
| Bouzidi et al., 2022 | North Africa | NI | 76 families: | 23 | |
| 45 non-Jewish families | 20 | MERTK (18%), PDE6B (11%), CERKL (9%), RP1 (9%) | |||
| 31 Jewish families | 7 | FAM161A (58%), EYS (23%), RDH12 (6%) | |||
| Jin et al., 2023 | China | 75 individuals/75 families | 44% (33/75) individuals | 14 | USH2A (22%), CYP4V2 (19%), RPGR (16%), EYS (6%) |
| Birtel et al., 2018 | Germany | 116 individuals/116 families | 70% (81/116) individuals | 30 | RPGR (10%), EYS (9%), PRPF31 (7%), USH2A (6%) |