Table 2.
Visual acuity, optical coherence tomography and color vision in cone dystrophy patients displaying a duplication at the IRXB gene cluster
| Patient Sex/Agea | Visual acuity | Optical coherence tomography | Color vision |
|---|---|---|---|
| ZD3-V:1 F/8 |
OD = 20/32 OS = 20/40 |
OU central thinning of the ONL, paracentral hyporeflectivity of the RPE | Panel D15 desaturated: OU tritan defect |
| ZD178-IV:1 F/8 |
OU = 20/20 | OU central thinning of the ONL, OS central RPE irregularities | ChromaTest: protan OD 2%, OS 4%, tritan OU 21% |
| ZD3-IV:10 M/19 |
OU = 20/63 | n.a. | Panel D15 desaturated: OU tritan/scotopic defect |
| ZD178-III:5 F/24 |
OU = 20/25 | OU central thinning of the ONL, OD paracentral hyporeflectivity of the RPE, OS central hyporeflectivity of the RPE, paracentral subretinal cleft | ChromaTest: protan OD 4%, OS 10%, tritan OD 32%, OS 50% |
| ZD346-III:1 M/26 |
OU = 20/100 | n.a. | n.a. |
| ZD346-III:2 F/31 |
OU = 20/100 | OU central thinning of the ONL, OD central hyporeflectivity of the RPE, OS central subretinal cleft | Panel D15 saturated: OU tritan defect |
| ZD178-III:4 F/38 |
OU = 20/80 | OU central atrophy | ChromaTest: protan OD 5%, OS 6%, tritan OD 34%, OS 51% |
| ZD178-III:2 F/39 |
OU = 20/100 | OU central atrophy | ChromaTest: protan OD 4%, OS 5%, tritan OD 56%, OS 64% |
| ZD3-IV:9 F/40 |
OU = 20/100 | OU central subretinal cleft | Panel D15 saturated: OU tritan defect |
| RCD460-II:9 F/41 |
OU = 20/25 | n.a. | Panel D15 saturated and desaturated: OU tritan defect; Lanthony tritan plates: only test plate is seen |
| ZD3-IV:8 F/43 |
OU = 20/100 | OD central subretinal cleft | Panel D15 desaturated: OU tritan defect |
| RCD460-II:3 M/46 |
OD = 20/200 OS = 20/32 |
n.a. | 28 Hue: OU outspoken tritan defect |
| ZD3-III:8 M/53 |
OU = 20/200 | n.a. | Panel D15 desaturated: OU tritan defect |
| ZD346-II:2 F/62 |
OU = 20/200 | OU central thinning of the ONL, central subretinal cleft, hyporeflectivity of the RPE elsewhere | Panel D15 saturated: OU tritan defect |
| ZD178-II:2 F/65 |
OU = 20/400 | OU central atrophy, OS central epiretinal membrane | ChromaTest: protan OD 12%, OS 20%, tritan OU >100% |
| ZD3-III:11 F/67 |
OD = 20/200 OS = 20/630 |
OU central atrophy | Panel D15 saturated: OD tritan defect, OS tritan/scotopic defect |
F: female, M: male, n.a.: not available, OD: right eye, ONL: outer nuclear layer, OS: left eye, OU: both eyes, RPE: retinal pigment epithelium, ChromaTest: protan <6% = norm, tritan <8% = norm.
aAge referring to age at examination.