Table 2
RHO Mutations and Phenotype
| Family number/mutation | Age of onset/mode of onset (age) | VA: RE/LE initial presentation (age) | Refractive error: RE/LE | Visual field: RE/LE (age) | ERG | Fundus | DA/panel D15 |
|---|---|---|---|---|---|---|---|
| 1/Ser176Phe (German) | IV:4 Night blindness; field constriction (13) | 60/100; 60/100 (33) | −1.75/−1.75 | Constriction to 15° (III/4e 90°) (33) | Scotopic: noise level | Slight optic atrophy, vessel narrowing, absent macular reflexes, peripheral pigment mottling, slight peripheral hyperpigmentation | Significant elevation/desaturated: normal |
| Loss visual acuity (30) | Cone 30Hz-flicker: residual responses (33) | ||||||
| V:4 Night blindness, glare sensitivity (2) | 80/100; 100/100 (6) | +1.5/+1.5 | Near normal (III/4e), constriction to 10–20° (I/4e 90°) (6) | not performed | Normal optic discs, peripheral RPE atrophy without bone spicules | Desaturated: normal | |
| 2/Arg314fs16 (Bosnian) | II:5 Night blindness, glare sensitivity, field constriction (33) | 100/100; 120/100 (36) | Emmetropic | Constriction to 50–60° with large scotomas 15–40° (III/4e 90°) (36) | Scotopic: amplitude reduction to 10% normal range | Mild optic atrophy, moderately narrowed vessels, atypical macular ILM reflexes; bone-spicules in lower sector, diffuse RPE atrophy | Significant elevation/desaturated: normal |
| Photopic: amplitude reduction to 50% normal range | |||||||
| MfERG: preserved foveal cone responses | |||||||
| 3/Pro215Leu (German) | II:3 Night blindness (birth), visual acuity loss, field constriction (33), glare sensitivity (45) | 10/200; 10/200 (48) | +1,25/+1,25 | Constriction to 5–7° (III/4e 90°) (48) | Noise level (48) | Waxy optic nerve atrophy, vessel attenuation, RPE atrophy, and hyperpigmentation | Significant elevation/saturated: disturbances all axes |
| II:6 Night blindness (birth) | No details | No details | Constriction to 5–10° (III/4e 90°) (35) | Noise level (35) | No details | No details | |
| III:4 Night blindness (birth), not aware of other symptoms | 120/100; 80/100 (16) | +2.5/+2.75 | Constriction to 10–25° (right eye), 7–15°(left eye) (III/4e 90°) (16) | Rod responses: noise level; cone 30 Hz: residual responses (16) | Normal optic disc, slightly narrowed vessels, cystoid macula oedema, peripheral RPE atrophy with hyperpigmentation | Significant elevation/desaturated: slight disturbances all axes | |
| 4/Val20Gly (Austrian) | III:13 No symptoms | 100/100; 80/100 (34) | 0; +3.5 RE: cataract surgery at age 27 | Not performed | Scotopic and photopic amplitude reduction with rest function; Electro-oculogram: no light peak, pathological Arden ratio | Absent macular reflexes, narrowed vessels, mid-peripheral hyperpigmentation | No details |
| 5/Thr289Pro (Austrian) | III:1 Night blindness, field constriction (3), color vision (9), glare sensitivity (12), visual acuity (18), cataract extraction (27) | 10/250; 10/250 (27) | Emmetropic | Constriction to <5° (III/4e 90°) | Scotopic/photopic noise level MfERG noise level | Temporal optic disc pallor, no macular reflexes, mid-peripheral hyperpigmentation | Significant elevation |
