Table 2.
Clinical Characteristics of the Patients (III-5, I-1, II-5) and the Unaffected Member (II-6)
| ID | Disease Status | Age (y); Sex | Symptoms Onset (Age) | Nyctalopia | Photophobia | Dyschromatopsia | Nystagmus | Visual Acuity (OD; OS) | Refraction (OD; OS) | ERG |
|---|---|---|---|---|---|---|---|---|---|---|
| III-5 (Proband) | Affected | 16; Male | Va↓, nyctalopia (12) | + | + | + | − | 20/400; 20/400 | −3.50 DS/−0.50 DC × 20°; −2.00 DS/−1.50 DC × 160° | Moderately decreased scotopic amplitudes with delayed implicit time, severely decreased photopic amplitudes OU |
| I-2 | Affected | 61; Female | Va↓, (∼40) | + | + | + | + | 20/333; 20/400 | −1.50 DS/−0.75 DC × 50°; −1.00 DS/−0.50 DC × 110° | Mildly decreased scotopic amplitudes with delayed implicit time, severely decreased photopic amplitudes OU |
| II-5 | Affected | 36; Female | Va↓, (∼25) | − | + | + | − | 20/200; 20/400 | −3.75 DS/−1.75 DC × 115°; −4.00 DS/−1.50 DC × 95° | Normal scotopic amplitudes with delayed implicit time, moderately decreased photopic amplitudes OU |
| II-6 | Normal | 37; Male | NA | − | − | − | − | 20/20; 20/20 | Normal | Normal |
NA, not applicable.