Table 2.
Clinical summary of Japanese patients with autosomal dominant retinitis pigmentosa with heterozygous RHO mutations.
| Patient, gender | Type of adRP | Age at examination | Mutation | BCVA | Electroretinograms (ERGs) | Reference | Notes | ||
|---|---|---|---|---|---|---|---|---|---|
| R | L | Flash (rod plus cone) ERG | Full-field ERG | ||||||
| Case 1, M | Classic | 44 | p.P347L | 0.5 | 0.66 | NR | NR in 30-Hz flicker | [23, 32] | Cataract |
| Case 2, F | Classic | 20 | p.P347L | 1.0 | 1.0 | NR | NR in 30-Hz flicker | [23, 32] | |
| Case 3, F | ND | 11 | p.P347L | 1.0 | 1.0 | Reduced | Reduced in 30-Hz flicker | [23, 32] | |
| Case 4, F | Classic | 75 | p.P347L | LP | LP | NR | NR in 30-Hz flicker | [23, 32] | Severe cataract |
| III-6, M | Sector | 49 | p.T17M | 0.2 | 0.2 | ND | Reduced in both rods and cones | [23, 33] | B-CME, L-CNV |
| Proband, F | Classic | 39 | p.E181K | 0.1 | 0.1 | ND | NR in rods, reduced in cones | [20] | B-CME |
| III-5, F | Sector | 52 | p.N15S | ND | ND | ND | ND | [24] | |
| II-2, M | Sector | 66 | p.G106R | 0.04 | 0.5 | ND | Reduced in both rods and cones | [25] | R-CME |
| III-1, F | Sector | 44 | p.G106R | 1.2 | 1.2 | ND | Reduced in rods, normal in cones | [25] | |
| III-2, F | Sector | 40 | p.G106R | 1.2 | 1.2 | ND | Reduced in rods, normal in cones | [25] | |
| II-2 (FN.1), M | Sector | 58 | p.W126L | 1.5 | 0.7 | ND | Reduced in both rods and cones | Current study | |
| III-1 (FN.1), F | Sector | 31 | p.W126L | 1.5 | 1.2 | ND | Reduced in both rods and cones | Current study | |
| II-1 (FN.2), F | Classic | 35 | p.A346P | 0.7 | 0.6 | ND | NR in both rods and cones | Current study | |
| III-1 (FN.2), M | ND | 14 | p.A346P | 1.2 | 1.5 | Reduced | ND | Current study | |
BCVA = decimal best-corrected visual acuity; R = right eye; L = left eye; B = both eyes; M = male; F = female; FN = family number; ND = not described or not done; NR = nonrecordable; LP = light perception; CNV = choroidal neovascularization; and CME = cystoid macular edema.