Table 2.
Clinical data of the family members participating in the study
| Family | ID | Sex | Age (y) | Disease status | Onset age (y) | Visual acuity unaided (corrected) |
Fundus features | |
|---|---|---|---|---|---|---|---|---|
| R eye | L eye | |||||||
| adRP-19 | II:1 | F | 82 | Yes | Childhood | LP | LP | Cataract, can't see the fundus |
| II:3 | F | 80 | Yes | 8 | LP | LP | Cataract, can't see the fundus | |
| III:2 | F | 58 | Yes | 3 | LP | LP | Cataract, can't see the fundus | |
| III:3 | M | 54 | Yes | 3 | 0.1 | 0.1 | Bilateral attenuation of retinal vessels, bone spicule pigments throughout the fundus, RPE degeneration, pale optic disc | |
| III:6 | M | 46 | No | – | 1.5 | 1.5 | No RP changes in both eyes | |
| III:7 | F | 65 | No | – | 0.9 | 0.8 | No RP changes in both eyes | |
| III:18 | M | 68 | No | – | 1.2 | 1.2 | No RP changes in both eyes | |
| IV:3 | F | 29 | Yes | Childhood | 1.0 | 1.0 | Bone spicule pigments in peripheral part of the fundus | |
| IV:5 | F | 27 | Yes | Childhood | 1.0 | 1.0 | Bone spicule pigments in peripheral part of the fundus | |
| IV:14 | M | 38 | Yes | 3 | 0.3 | 0.5 | Bilateral attenuation of retinal vessels, bone spicule pigments in peripheral part of the fundus, RPE degeneration | |
| IV:15 | F | 34 | No | – | 1.5 | 1.5 | No RP changes in both eyes | |
| IV:17 | F | 37 | No | – | 1.5 | 1.2 | No RP changes in both eyes | |
| V:3 | M | 16 | Yes | 2 | 1.2 | 1.2 | Bone spicule pigments in peripheral part of the fundus | |
| V:6 | M | 3 | Yes | 2 | 1.2 | 1.2 | Bone spicule pigments in peripheral part of the fundus | |
| adRP-61 | II:9 | M | 80 | No | – | 1.0 | 1.0 | No RP changes in both eyes |
| III:1 | F | 63 | Yes | 12 | 0.4 | 0.5 | Bone spicule pigments in peripheral part of the fundus | |
| III:2 | M | 63 | No | – | 0.8 | 0.8 | No RP changes in both eyes | |
| III:3 | M | 61 | No | – | 1.0 | 1.0 | No RP changes in both eyes | |
| III:7 | F | 49 | No | – | 1.2 | 1.0 | No RP changes in both eyes | |
| III:9 | F | 48 | Yes | Childhood | 0.06 | 0.06 | Bilateral attenuation of retinal vessels, bone spicule pigments throughout the fundus, RPE degeneration, pale optic disc | |
| III:10 | M | 50 | No | – | 1.2 | 1.2 | No RP changes in both eyes | |
| III:12 | M | 40 | Yes | Childhood | 0.5 | 0.6 | Bone spicule pigments in peripheral part of the fundus | |
| III:13 | M | 38 | Yes | Childhood | 0.7 | 0.6 | Bone spicule pigments in peripheral part of the fundus | |
| III:14 | M | 45 | No | – | 1.0 | 1.0 | No RP changes in both eyes | |
| III:22 | F | 64 | No | – | 1.2 | 1.2 | No RP changes in both eyes | |
| III:25 | M | 50 | Yes | Childhood | 0.2 | 0.1 | Bilateral attenuation of retinal vessels, bone spicule pigments throughout the fundus, RPE degeneration, pale optic disc | |
| III:30 | M | 49 | Yes | Childhood | 0.1 | 0.06 | Bilateral attenuation of retinal vessels, bone spicule pigments throughout the fundus, RPE degeneration, pale optic disc | |
| IV:2 | M | 32 | Yes | Childhood | 0.7 | 0.6 | Bone spicule pigments in peripheral part of the fundus | |
| IV:5 | F | 35 | Yes | Childhood | 0.9 | 0.7 | Bone spicule pigments in peripheral part of the fundus | |
| IV:8 | F | 28 | No | – | 1.5 | 1.5 | No RP changes in both eyes | |
| IV:11 | F | 40 | Yes | Childhood | 0.5 | 0.6 | Bone spicule pigments in peripheral part of the fundus | |
RP, retinitis pigmentosa; RPE, retinal pigment epithelium.