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% |
ND – no data. Grey color indicates the first symptom reported by the patient