Table 1
Summary of clinical features of 21 patients with retinitis pigmentosa included in the study
| Patient | Figure | Age | Nyctalopia (years) | Visual field loss | Bone-spicule pigment | Inheritance | Other symptoms/signs or genetic marker |
|---|---|---|---|---|---|---|---|
| MfERGs were performed on all patients apart from case 21. Serial AF images from cases 6, 7, and 21 are shown in figure 9A, B, and C, respectively. Inheritance is shown as dominant (D) or recessive (R) where known. NR, not reported. ND, not detected. | |||||||
| 1 | 1A, 2A | 47 | +(10) | + | + | ||
| 2 | 1B, 2B | 51 | +(20) | + | + | D | |
| 3 | 1C, 2C | 22 | NR | NR | ND | D | Mild peripheral pigmentary disturbance. Asymptomatic |
| 4 | 5, 7C, 7D | 38 | + (>20) | + | + | Photopsias, vitreous opacities | |
| 5 | 6, 7E, 7F | 41 | + | + | Ring scotoma | ||
| 6 | 7G, 7H, 9A, 10 | 26 | +(3) | + | + | R | Usher 2. Attenuated vessels, disc pallor, epiretinal membranes |
| 7 | 9B | 33 | + (2) | NR | ND | R | Usher 2. Attenuated vessels. Peripheral pigment and atrophy |
| 8 | 28 | + (18) | + | ND | R | Intra-retinal pigment | |
| 9 | 31 | + | + | ||||
| 10 | 23 | + (3) | + | + | D | Peripheral atrophy, pigment migration, epiretinal membranes | |
| 11 | 25 | NR | NR | ND | D | RP18. Attenuated vessels, right amblyopia | |
| 12 | 16 | + | + | R | Usher 2 | ||
| 13 | 46 | + (>25) | + | + | Pale discs, attenuated vessels | ||
| 14 | 35 | +(17) | + | + | D | Attenuated vessels | |
| 15 | 36 | +(1) | + | + | |||
| 16 | 31 | NR | + | ND | |||
| 17 | 36 | +(>20) | + | + | D | Pale discs, amblyopia left eye | |
| 18 | 34 | +(1–2) | + | + | D | ||
| 19 | 33 | + | + | + | D | Atrophic areas close to arcades | |
| 20 | 42 | + | + | + | D | ||
| 21 | 9C | 11 | + (>5) | NR | ND | Attenuated vessels, pale fundi | |
