Table 1 of
Wawrocka, Mol Vis 2018; 24:326-339. Table 1 of
Wawrocka, Mol Vis 2018; 24:326-339.
Table 1. Ophthalmological findings of CRD patients.
| Family | Gender | Age (yrs) | Inheritance | BCVA right-left | Fundus/AF | Color Vision disturbances | Nyctalopia | Nystagmus | Photophobia | Perimetry | ERG |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | M | 29 | XL | 0.1–0.1 | pale optic disc | + | - | + | + | ND | photopic and scotopic diminished |
| 2 | F | 53 | AD | 0.02- 0.02 | normal | + | - | - | - | concentric narrowed | ND |
| 3 | F | 33 | AR | 0.2–0.3 | bull's eye maculopathy | + | - | - | + | normal | photopic diminished, scotopic slightly diminished |
| 4 | M | 27 | AD | 0.2–0.2 | bilateral mild changes | + | - | - | + | visual field deficit | photopic and scotopic diminished |
| 5 | M | 17 | AR | 0.4- 0.4 | bilateral macular granular appearance | + | + | - | + | concentric narrowed | photopic extinguished, scotopic 50% |
| 6 | F | 16 | AR | 0.1–0.1 | ND | + | - | + | + | ND | photopic 15%, scotopic 5% |
| 7 | M | 50 | XL | 0.05- 0.1 | bull's eye maculopathy | + | - | - | + | central scotoma | photopic extinguished, scotopic diminished |
| 8 | M | 24 | XL | 0.1–0.1 | normal | - | - | + | + | ND | photopic and scotopic diminished |
| 9 | F | 36 | AD | 0.3–0.3 | bull’s eye maculopathy | + | + | - | - | irregular scotomas | photopic and scotopic diminished |
| 10 | F | 35 | AD | 0.1- 0.1 | bilateral pale optic disc | + | - | + | + | ND | photopic and scotopic extinguished |
| 11 | M | 43 | AR,XL | 0.06- 0.1 | loss of macular reflex/ RPE atrophy | + | - | + | + | visual field deficit, mostly peripheral | ND |
| 12 | F | 20 | AR | 0.2–0.3 | normal | + | - | + | + | ND | photopic diminished, scotopic 50% |
| 13 | M | 38 | AR,XL | 0.6- 0.9 | bull's eye maculopathy, narrowing of the retinal blood vessels | + | + | - | + | irregular scotomas | photopic and scotopic diminished |
| 14 | F | 13 | AD | 0.1- 0.1 | loss of macular reflex, pale optic disc | - | + | + | - | ND | photopic and scotopic diminished |
| 15 | M | 20 | AR,XL | 0.2- 0.2 | macula with reflex, normal optic disc and blood vessels | - | - | - | - | normal | photopic residual, scotopic subnormal |
| 16 | F | 45 | AD | 0.1- 0.1 | normal/ RPE atrophy, macular granular appearance | + | + | + | + | concentric narrowed (5°) | photopic and scotopic diminished |
| 17 | M | 9 | AR | 0.1–0.2 | loss of macular reflex, foveal hypoplasia | +/− | - | - | + | ND | extinguished photopic and diminished scotopic |
| 18 | F | 34 | AD | 0.1- 0.1 | bilateral macular granular appearance | + | - | - | + | central irregular scotomas | photopic diminished, scotopic 50%–80% |