From: A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1
Patient | Sex | Age at onset | Symptoms | Age at exam. | Visual acuity OD/OS | Fundus | Visual field | ERG OD/OS Scotopic dim blue Photopic single white flash Light adapted 30-Hz flickers |
---|---|---|---|---|---|---|---|---|
II:2 | F | None | 64 | 20/20 20/16 | Mild attenuation of retinal vessels | NA | 40 μV/23 μV 181 μV/175 μV 90 μV/94 μV | |
II:3 | F | 40 | Nystagmus Night blindness Photophobia | 70 | 20/40 20/32 | Mild attenuation of retinal vessels. Macular atrophy | OD:relative 20° central scotoma OS:absolute 20-30° central scotoma Normal PVF on both eyes | 124 μV/173 μV 56 μV/60 μV 46 μV/56 μV |
III:1 | F | 32 | Nystagmus No photophobia No night blindness | 44 | 20/100 20/100 | Severe macular atrophy Rare bone spicule-shaped pigment deposits | Absolute 30° central scotoma and normal PVF on both eyes | 48 μV/35 μV 44 μV/42 μV 32 μV/41 μV |
III:2 | M | None | 38 | 20/25 20/20 | Normal | Normal | 253 μV/275 μV 30 μV/41 μV 70 μV/84 μV | |
III:9 | F | 35 | Nystagmus Night blindness Photophobia | 45 | 20/25 20/25 | Mild attenuation of retinal vessels | Normal | 130 μV/121 μV 34 μV/46 μV 41 μV/40 μV |
III:10 | M | Early childhood | Night blindness Mild photophobia | 38 | 20/32 20/32 | Posterior pole atrophy Mild attenuation of retinal vessels | Absolute 10° central scotoma and normal PVF on both eyes | 157 μV/160 μV 51 μV/45 μV 88 μV/77 μV |
IV:1 | M | Photophobia | 1 | NA | Mild attenuation of retinal vessels. Abnormal pigmentation of the macular area. | NA | NA | |
IV:4 | M | No photophobia No night blindness | 11 | 20/32 20/50 | Posterior pole atrophy Attenuated retinal vessels | Normal | NA/139 μV NA/24 μV NA/66 μV | |
IV:10 | M | Early childhood | Nystagmus Photophobia No night blindness | 19 | 20/200 20/200 | Moderate pallor of the optic discs, and macular atrophy | Relative 20° central scotoma and normal PVF on both eyes | 91 μV/89 μV 20 μV/13 μV 39 μV/42 μV |