Table 2 Summary of clinical findings in family members with identical peripherin/RDS mutation as the probands.
| Family | Pedigree number | Mutation | Age at onset (y) | Age (y) | Visual acuity | Retinal phenotype | ERG photopic* | ERG scotopic* | EOG† | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| OD | OS | OD | OS | OD | OS | OD | OS | ||||||
| B | II:1 | p.D145fsX30 | – | 39 | 1.2 | 1.0 | ODS: normal | – | – | – | – | – | – |
| C | II:2 | p.N54fsX9 | 70 | 85 | 0.017 | 0.0033 | ODS: extensive atrophy of posterior pole, mid‐peripheral yellowish flecks | – | – | – | – | – | – |
| II:3 | p.N54fsX9 | – | 80 | 0.9 | 1.0 | ODS: macular pattern dystrophy changes, non‐confluent STGD1‐like flecks around vascular arcades | – | – | – | – | – | – | |
| III:2 | p.N54fsX9 | 56 | 57 | 1.2 | 1.2 | ODS: macular pattern dystrophy changes, STGD1‐like flecks around vascular arcades with incipient confluence | N | N | N | N | 2.1 | 2.9 | |
| IV:1 | p.N54fsX9 | – | 34 | 1.2 | 1.0 | OS: normal, OD: discrete spot of parafoveal pigmentary changes | – | – | – | – | – | – | |
| D | II:2 | p.P147fsX4 | 60 | 67 | 0.8 | 0.9 | ODS: confluence of STGD1‐like lesions and patches of atrophy in posterior pole, OD slight peripheral pigmentary changes | N | N | N | N | – | – |
| III:1 | p.P147fsX4 | – | 41 | 0.9 | 0.9 | ODS: macular pattern dystrophy changes, STGD1‐like flecks around vascular arcades | N | N | N | N | 1.8 | 1.6 | |
| E | III:1 | p.P147fsX4 | – | 59 | 0.017 (amblyopia) | 0.8 | ODS: mild foveal pigmentary changes, reticular pattern of pigmentary changes in peripheral retina | – | – | – | – | – | – |
| III:4 | p.P147fsX4 | – | 50 | 1.2 | 1.2 | ODS: mild foveal pigmentary changes | – | – | – | – | – | – | |
| III:14 | p.P147fsX4 | 12 | 60 | 0.2 | 0.2 | ODS: extensive chorioretinal atrophy outside macular area, bone spicule pigmentation, narrow retinal vessels, waxy pale optic disc | SA | SA | SA | SA | 1.0 | 1.0 | |
| III:15 | p.P147fsX4 | 35 | 65 | 0.6 | 0.6 | ODS: multifocal pattern dystrophy, yellow‐white flecks throughout posterior pole | – | – | – | – | – | – | |
| IV:1 | p.P147fsX4 | – | 37 | 1.2 | 1.0 | ODS: discrete foveal pigmentary changes, small yellow–white dots around retinal vascular arcades | – | – | – | – | – | – | |
| IV:2 | p.P147fsX4 | – | 32 | 1.6 | 0.0033 (trauma) | ODS: normal | – | – | – | – | – | – | |
| F | II:3 | p.R220fsX34 | 43 | 45 | 1.6 | 1.6 | ODS: small yellowish lesions in fovea, similar to lesions seen initially in proband B (fig 2) | – | – | – | – | – | – |
| III:1 | p.R220fsX34 | – | 29 | 1.0 | 1.0 | ODS: normal | – | – | – | – | – | – | |
| G | III:2 | c.581+4dupA | 49 | 50 | 0.8 | 0.8 | ODS: multifocal pattern dystrophy, atrophic confluence of STGD1‐like flecks | – | – | – | – | – | – |
| H | II:1 | p.R203fsX8 | – | 49 | 1.2 | 1.0 | ODS: small yellowish lesions in fovea, small STGD1‐like flecks around vascular arcades | N | A | N | N | 2.0 | 1.6 |
| II:2 | p.R203fsX8 | – | 45 | 0.9 | 0.8 | ODS: small yellowish lesions in fovea, small STGD1‐like flecks around vascular arcades (fig 2) | N | N | N | N | 1.8 | 1.6 | |
| I | III:2 | p.W21X | 30 | 30 | 0.8 | 0.5 | ODS: small yellow lesions with pigmented centre in foveal area, similar to lesions seen in proband B, many STGD1‐like flecks around vascular arcades | – | – | – | – | – | – |
| J | II:4 | p.P210R | 52 | 65 | 1.0 | 0.3 | OD: butterfly‐shaped pattern dystrophy, OS: foveal atrophy surrounded by pigmentary changes | N‡ | N‡ | A‡ | A‡ | 1.5‡ | 1.5‡ |
*ERG results are expressed in abbreviations that reflect the amplitude: N, normal (equal to or above the lower 5% of the range for a normal population: photopic ⩾78 μV, scotopic ⩾263 μV); A, abnormal (1–5% of normal range: photopic: ⩾69 μV and <78 μV, scotopic: ⩾195 μV and <263 μV); SA, severely abnormal (below 1% of normal range: photopic <69 μV, scotopic <195 μV); NR, non‐recordable. †Values are Arden ratios: ISCEV: normal if ⩾2.0, non‐ISCEV: normal if ⩾1.8. ‡Recorded prior to ISCEV regulations according to the protocol described by Thijssen et al.35