| Patient | Genotype | First documented visual acuity (age) | Last documented visual acuity (age) | ERG findings (age) | Final diagnosis |
|---|---|---|---|---|---|
| A-II:1 | Homozygous `POC1B c.317C>G (p.Arg106Pro)` | RE 0.16; LE 0.16 (3 years) | RE counting fingers; LE 0.1 (16 years) | Nonrecordable cone responses; normal rod responses (9 and 13 years) | Cone dystrophy (COD) |
| A-II:3 | Homozygous `POC1B c.317C>G (p.Arg106Pro)` | RE 0.8; LE 0.8 (10 years) | RE 0.3; LE 0.2 (19 years) | Severely reduced cone responses; normal rod responses (11 years) | Cone dystrophy (COD) |
| A-II:4 | Homozygous `POC1B c.317C>G (p.Arg106Pro)` | RE 1.0; LE 0.8 (3 years) | RE 0.16; LE 0.2 (9 years) | Nonrecordable cone responses; severely reduced rod responses (6 years) | Cone-rod dystrophy (CRD) |
| B-II:1 | Compound heterozygous `POC1B c.199_201del (p.Gln67del)` and `c.810+1G>T` | RE 0.2; LE 0.2 (14 years) | RE 0.05; LE 0.05 (60 years) | Nonrecordable cone responses with normal rod responses (14 years); nonrecordable cone responses with significantly reduced rod responses (55 years) | Cone-rod dystrophy (CRD) |
| **Total (n=4)** | — | — | — | — | **2 COD; 2 CRD** |


*Table: Clinical findings from the four affected individuals in Roosing et al.’s original 2014 POC1B report, including exact examination ages and progression from cone-predominant to cone-rod dysfunction (pqac-00000012).*