Table 1
Minimal values for ERG recordings: 100 μV for the photopic ERG, 150 μV for the scotopic ERG with a white stimulus after 12 minutes of dark adaptation, 170 μV for the scotopic ERG with a blue stimulus after 15 minutes of dark adaptation
| Number | Genotype | Age | Age of onset (years) | Initial symptom | Visual acuity (1995) | Funduscopy | Photopic ERG (μV) | Scotopic ERG (μV) white | Scotopic ERG (μV) blue | ||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| right eye | left eye | right eye | left eye | right eye | left eye | ||||||||||||||||||
| IV-3 | HTZ | 84 | 12 | Decrease in visual acuity | CF | Marked central chorioretinal atrophy and mild chorioretinal atrophy in the mid-periphery. No abnormalties of the vessels and the optic disc. No bone spicules. | 0 | 0 | 0 | 0 | 0 | 0 | |||||||||||
| IV-7 | HTZ | 74 | 20 | Decrease in visual acuity | CF | Marked central chorioretinal atrophy and irregular hyperpigmentation of the pigment epithelium in the posterior pole. Patchy chorioretinal atrophy in the mid-periphery. Temporal paleness of the optic disc. | 20 | 30 | 0 | 0 | 75 | 30 | |||||||||||
| V-3 | HMZ | 59 | 6 | Night blindness | LP | Central and mid-peripheral chorioretinal atrophy, mid-peripheral bone spicules, narrow vessels, and a “waxy” pale optic disc. | NP | NP | NP | NP | NP | NP | |||||||||||
| V-5 | HTZ | 56 | 15 | Decrease in visual acuity | CF | Central chorioretinal atrophy with irregular hyperpigmentation of the retinal pigment epithelium. No mid-peripheral abnormalities. | 30 | 20 | 0 | 0 | 50 | 30 | |||||||||||
| V-8 | HMZ | 51 | 7 | Night blindness | LP | Marked central chorioretinal atrophy, mid-peripheral bone spicules and diffuse chorioretinal atrophy. Severe narrowing of the retinal vessels and temporal paleness of the optic disc. | 20 | 40 | 0 | 0 | 0 | 0 | |||||||||||
| V-9 | HMZ | 50 | 7 | Night blindness | LP | Marked central and mid-peripheral atrophy, with central hyperpigmentation and mid-peripheral bone spicules, narrow vessels, and paleness of the optic disc. | 0 | 80 | 0 | 0 | 0 | 0 | |||||||||||
| V-10 | HTZ | 48 | 12 | Decreased visual acuity | CF | Central chorioretinal atrophy with focal hyperpigmentation. No bone spicules and no abnormalities of the vessels and the optic disc. | 30 | 50 | 0 | 0 | 0 | 0 | |||||||||||
| V-11 | HTZ | 46 | 12 | Grey spot in the central field of vision | CF | Central chorioretinal atrophy with focal hyperpigmentation. Small round patches of chorioretinal atrophy with mild hyperpigmentation in the mid-periphery. Mild temporal paleness of the optic disc. | 80 | 80 | 0 | 0 | 75 | 30 | |||||||||||
| V-12 | HMZ | 43 | 6 | Night blindness | HM | Central chorioretinal atrophy with patchy atrophy in the mid-periphery. Bone spicules, narrow vessels, and a pale optic disc. | 20 | 55 | 0 | 0 | 0 | 0 | |||||||||||
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HTZ = compound heterozygosity for IVS30+1g→t and IVS40+5g→a mutation; HMZ = homozygosity for IVS30+1g→t mutation; CF = counting fingers; HM = hand movements; LP = light perception; NP = not performed.
