Table 2:
Participants with p.Arg172Trp Variant
| Family code | Diagnosis | Age y | Age of onset y | BCVA logMAR OD | BCVA logMAR OS | ERG Response | Fundus Appearance |
|---|---|---|---|---|---|---|---|
| 12.1 | PD | 52 | 32 | +0.60 | +0.18 | N | OU: Depigmented lesion in fovea, central hypofluorescence surrounded by hyperfluorescence by FA, foveal atrophy, ‘questionable dark choroid’ by FA |
| 12.2 | PD | 26 | 26 | −0.12 | 0.00 | ND | OU: Depigmented lesion in fovea, Hyperpigmentation, Central hypofluorescence surrounded by hyperfluorescence by FA |
| 22 | BD | 56 | 20 | +1.30 | +1.30 | ND | OU: Scar/atrophy |
| 72 | CRD | 12 | 12 | −0.10 | 0.00 | ND | OU: Macular degeneration, granular macular pigmentation, Bull’s eye pattern w/hypopigmented parafovea, normal OCT thickness |
| 73.1 | CRD | 56 | 15 | +1.00 | +1.30 | A | OU: Macular degeneration, vascular attenuation |
| 73.2 | CRD | 60 | 36 | +0.30 | +0.30 | A | OU: Macular degeneration |
| 73.3 | CRD | 38 | 38 | +0.30 | +0.10 | A | OU: Macular degeneration, central choroidal show |
| 73.4 | CRD | 63 | 30 | +1.30 | +1.20 | ND | OU: Macular degeneration, vascular attenuation |
| 74 | PD | 56 | 55 | 0.00 | +0.10 | ND | OU: Depigmented lesion in fovea |
| 75 | RP | 46 | 24 | +2.00 | +2.00 | ND | OU: Retinal degeneration, intraretinal pigment spicules, macular degeneration, peripheral retinal degeneration, vascular attenuation |
| 127 | CRD | 49 | 41 | +0.30 | +0.18 | A | OU: Macular degeneration |
| 133 | RP | 58 | 20 | +0.70 | +3.00 | ND | OU: Retinal degeneration, intraretinal pigment spicules, vascular attenuation |
| 144 | SD | 15 | 11 | +0.48 | +1.00 | ND | OU: Macular degeneration, vascular attenuation |
Age at exam in years (y); Reported age of onset in years (y); PD-Pattern dystrophy, BD-Best disease, CRD-Cone rod dystrophy, RP-Retinitis pigmentosa, SD-Stargardt disease; Full-field ERG response N-Normal, A-Abnormal, ND-Not done