Table 1.
Clinical features of attainable patients
| Family member ID | RP causative gene | Age (year)/sex | Onset age (year) | Night blindness | Cataract | BCVA (logMAR) | Fundus appearance | ERG | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| O.D. | O.S. | |||||||||||||||||
| O.D. | O.S. | O.D. | O.S. | MD | OD | AA | PD | MD | OD | AA | PD | O.D. | O.S. | |||||
| A-V:2a | – | – | 10 | Yes | – | – | LP | LP | – | – | – | – | – | – | – | – | – | – |
| A-VI:2 | C8ORF37 | 25/F | 8 | Yes | No | No | LP | LP | Yes | Waxy | Yes | Yes | Yes | Waxy | Yes | Yes | D | D |
| A-VI:3 | OFD1 | 24/M | 2 | Yes | No | No | LP | LP | Yes | Waxy | Yes | Yes | Yes | Waxy | Yes | Yes | D | D |
| B-II:4 | RP1 | 80/F | 50 | Yes | Severe | Severe | NLP | LP | – | – | – | – | Yes | Waxy | Yes | Yes | – | D |
| B-III:3 | RP1 | 59/M | 30 | Yes | IOL | IOL | 0.6 | 0.25 | Yes | Waxy | Yes | Yes | Yes | Waxy | Yes | Yes | D | D |
| B-III:5 | RP1 | 54/F | 35 | Yes | Mild | Mild | 0.3 | 0.3 | Yes | Waxy | Yes | Yes | Yes | Waxy | Yes | Yes | D | D |
| B-IV:1 | TULP1 | 27/M | EC | Yes | Moderate | Moderate | 0.15 | 0.2 | Yes | Waxy | Yes | Yes | Yes | Waxy | Yes | Yes | D | D |
| B-IV:2 | TULP1 | 24/F | EC | Yes | Moderate | Moderate | 0.3 | 0.3 | Yes | Waxy | Yes | Yes | Yes | Waxy | Yes | Yes | D | D |
| B-IV:4 | RP1 | 31/F | – | Yes | No | No | 0.5 | 0.8 | No | No | No | Yes | No | No | No | Yes | R | R |
F female, M male, EC early childhood, BCVA best corrected visual acuity, logMAR logarithm of the minimum angle of resolution, O.D. right eye, O.S. left eye, IOL intraocular lens, LP light perception, NLP non-light perception, MD macular degeneration, OD optic disk, AA artery attenuation, PD pigment deposits, ERG electroretinography, D diminished, R reduced
aThis patient is deceased. His clinical features are obtained based on his medical records