Table 2. Phenotypic characteristics (means and standard deviation) of patients with the p.Gly56Arg mutation in NR2E3.
| Age at diagnosis (yr) | NB Onset (yr) | VF loss Onset (yr) | Cataract (yr) | VA | VA (WHO severity) | Fundus | ERG | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Typical | Macular alteration | Impaired (yr) | Non recordable (yr) | ||||||||
| 30.2 ± 14 | 15.9 ± 10.1 | 23.3 ± 11.9 | Yes = 14, No = 5, NA = 5 | <50yr RE = 0.70 ± 0,17; LE = 0.72 ± 0.23 | >50yr RE = 0.3 ± 0,3; LE = 0.3 ± 0,3; | <50yr Normal vision | >50yr Moderate to profound vision loss | 63.2% (12/19) | 47.4% (9/19) | 29.2 ± 13.9 | 54.55 ± 14.4 |
Yr: Years. VA: Visual Acuity. VF: Visual Field. ERG: Electroretinogram. NA: Not Available. RE: Right Eye. LE: Left Eye. VA classificationa: 0 = Normal vision (normal and near normal vision) (≥0.4), 1 = Moderate low vision (<0.4 –>0.1), 2 = Severe low vision (≤0.1–≥0.05, legal blindness), 3 = profound vision loss and blindness (blindness and near blindness, <0.05). Typical fundus: optic disc pallor, attenuation of the retinal vessels and pigmentary deposits resembling bone spicules.