Table 3.
Phenotypic characteristics of homozygous patients for p.Trp3955Ter.
| Patient | Sex | Age at Onset of Nyctalopia (Years) | Age at Eye Exam (Years) | VA (RE, LE) | Ishihara (RE, LE; N Out of 15 Plates Seen) | Goldmann II4 Radius (RE, LE) (Degrees) | Fundus Autofluorescence Pattern (RE, LE) | Age at Audiogram (Years) | Average Hearing Loss Accross (R,L) (dB) |
|---|---|---|---|---|---|---|---|---|---|
| 2–06 | Male | 12 | 19 | 1.0. 1.0 | N/A | N/A | Ring, Ring | 21 | 56, 60 |
| 12–79 | Male | 22 | 28 | 1.0, 1.0 | 14, 14 | 10, 15 | Ring, Ring | 17 | 66, 68 |
| 11–33 | Male | 9 | 38 | 0.8, 0.9 | 13, 13 | 11, 10 | Ring, Ring | 30 | 130*, 80 |
| 11–44 | Male | 13 | 41 | 0.6, 0.6 | 1, 1 | 3, 3 | Ring, Ring | 42 | 71, 65 |
| 11–14 | Female | 12 | 44 | 0.15, 0.2 | 0, 0 | 0, 0 | Patch, Patch | 44 | 59, 68 |
| 11–32 | Male | 10 | 61 | CF, HM | 0, 0 | 2, 1 | Atrophy, Atrophy | 57 | 75, 75 |
| 12–56 | Male | 42 | 62 | 0.6, 0.2 | 3, 1 | 6, 6 | Ring, Ring | N/A | N/A |
| 12–37 | Male | 16 | 64 | LP, LP | 0, 0 | 0, 0 | Patch, Patch | 65 | 59, 61 |
| 12–36 | Female | 35 | 65 | HM, HM | 0, 0 | 0, 0 | Patch, Patch | N/A | N/A |
| 12–-8 | Female | 4 | 73 | HM, HM | 0, 0 | N/A | Patch, Atrophy | 63 | 89, 98 |
RE = Right eye, LE = Left eye, CF = Counting fingers, HM = Hand motion, LP = Light perception, N/A = Not applicable; * Cholesteatoma. Patients are arranged by age at ophthalmological exam.