Table 1.
Summary of male and female patients
| Patient | Age at exam | Visual acuity (OD–OS) | Fundus findings | Dark adaptation rod threshold | ERG Amplitude/Implicit Time (OD–OS) |
|---|---|---|---|---|---|
| (A) Summary of male patients | |||||
| II : 1 | 53 | 10/200–10/200 | Preserved fovea, diffuse RPE atrophy, bone spicule pigmentation, disc pallor, peripapillary atrophy, pallor and tilted disc | 4.3 OU log unit elevation | Non-recordable |
| 56 | 10/160–10/160 | NA | 4.35 log unit elevation | NA | |
| IV: 1 | 7 | 20/60–20/50 | Preserved fovea, diffuse RPE loss in equatorial region, vessel attenuation, pallor and TA | 3.05–3.35 log unit elevation (OD–OS) | Non-recordable |
| 22 | 20/50–20/50 | Bone spicule pigmentation in addition to the above | 3–3.35 log unit elevation (OD–OS) | Still non-recordable | |
| IV: 13 | 7 months | NA | Dull macular reflex, no pigment changes, vessel attenuation, slight disc pallor | NA | Non-recordable |
| 6 | 20/30–20/30 | Still no bone spicule pigmentation, mild nerve fibre layer attenuation | NA | Not repeated | |
| IV: 10 | 10 | 20/50–20/40 | Diffuse RPE atrophy, bone spicule as well as round subretinal pigment deposits, disc pallor and TA | Unreliable | Non-recordable |
| V: 2 | 9 | 20/60–20/60 | Very dull foveal reflex, diffuse RPE atrophy, TA | NA | Flicker barely detectable OU. Scotopic non-detectable. |
| IV: 6 | 11 | 20/40–20/50 | Preserved fovea, scattered clumps of round pigment and lacunar atrophy with hyperpigmented edges | 1.5–0.5 log unit elevation (OD–OS) | Non-recordable |
| 15 | 20/40–20/50 | Absent foveal reflex, macula involved, fine bone spicule pigmentation, heavy RPE granularity, vessel attenuation, ONH gliosis | Not repeated | Not repeated | |
| (B) Summary of female patients | |||||
| III : 2 | 33 | 20/30–20/30 | Preserved fovea, occasional pigment clumping, ONH drusen and temporal atrophy | Normal OU | P 50 μV/36 ms–20 μV/36 ms S 100 μV/60 ms–70 μV/60 ms M 150 μV/48 ms–100 μV/48 ms F barely recordable OU |
| 48 | 20/32–20/40 | Generalised RPE atrophy with very mild bone spicules in periphery in addition to the above | Normal OU | P NR S 135 μV/92 ms–132 μV/84 ms M 109 μV/21 ms–89 μV/24 ms F NR–NR |
|
| III : 11 | 13 | 20/30–20/30 | Fovea intact, few scattered pigment clumps and bone spicules in periphery, ONH drusen, tilted disc, peripapillary atrophy | Normal OU 1.3 OU at age 15 | P NR–NR S NR–NR M 30 μV/48 ms–NR F NR–NR |
| 30 | 20/30–20/70 | Foveal atrophy, attenuation of nasal arcades, ONH drusen, tilted disc | 3.25 log unit elevation | Virtually non-recordable by age 16 | |
| III : 12 | 10 | 20/25–20/30 | Intact fovea, no pigment deposits, blond fundus, peripapillary nerve fibre layer dropout | Normal OU | P 30 μV/40 ms–NR S 50 μV/80 ms–NR M 90 μV/60 ms–50 μV/60 ms F Barely recordable |
| 33 | 20/40–20/40 | Fovea involved, bone spicule pigmentation, diffuse RPE atrophy, TA, and vessel attenuation | 3.00 log unit elevation OU (age 28) | Non-recordable | |
| III : 3 | 44 | 20/25–20/30 | Dull foveal reflex with dark choroidal pattern and tigroid appearance, thinning of RPE in parafoveal region, fine bone spicule pigment clumps, ONH gliosis, vessel attenuation, peripapillary atrophy | 1.8–2 log unit elevation (OD–OS) | P 43 μV/40 ms–15 μV/38 ms S 100 μV/66 ms–60 μV/90 ms M NA F 18 μV–8 μV |
| III : 8 | 35 | 20/50–20/40 | Pigment clumps, bone spicules, lacunar atrophy, paving stone changes in periphery | Normal OU (1 log unit elevation) | P 29 μV/52 ms–49 μV/32 ms S 58 μV/77 ms–140 μV/70 ms M 124 μV/52 ms–226 μV/53 ms F 45.2 μV–36.8 μV |
| IV: 12 | 9 | 20/20–20/20 | Fovea and fundus intact | NA | P 110 μV/30 ms–106 μV/30 ms S 262 μV/70 ms–239 μV/74 M 319 μV/54 ms–301 μV/54 ms F 100 μV/29 ms–93 μV/30 ms |
| IV: 9 | 14 | 20/40–20/40 | Fovea intact, occasional bone spicules in periphery, round pigment spots, white granular deposits in anterior retina and adjacent areas, no disc anomaly | Unreliable | P 58 μV/38 ms–53 μV/37 ms S 62 μV/90 ms–171 μV/106 ms M 175 μV/56 ms–156 μV/58 ms F 40.8 μV–40.8 μV |
| IV: 4 | 10 | 20/40–20/40 | Parafoveal orange colour, mild vessel attenuation, TA, nerve fibre layer dropout | Normal OU | NA |
| 31 | 20/30–20/30 | Same as above | NA | P 62 μV/41 ms–60 μV/41 ms S 185 μV/91 ms–186 μV/93 ms M 214 μV/61 ms–215 μV/61 ms F 61 μV/35 ms–61 μV/36 ms |
|
F, flicker; M, dark-adapted bright/flash; NA, not available; NR, non-recordable; ONH, optic nerve head drusen; P, photopic; RPE, retinal pigment epithelium; S, scotopic; TA, temporal atrophy.
Normal ERG values: P 151 (±41) μV/32 (±5) ms|S 337 (±100) μV/66 (±14) ms|M 471 (±160) μV/45 (±13) ms | F>55 μV.