Table 1. Clinical Features of Attainable Patients.
| Patient ID | Genotype | Status | Age at last visit (Age of Onset)* | Sex | Fundus Appearance |
ERG | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BCVA (logMAR) | Refractive Error | O.D. |
O.S. |
VF | |||||||||||||||
| O.D. | O.S. | O.D. | O.S. | MD | OD | AA | PD | MD | OD | AA | PD | O.D. | O.S. | ||||||
| AD02-II:3 | c.289G>C | Het | D (20) | M | 0.05 | 0.1 | NA | NA | Yes | Waxy | Yes | Yes | Yes | Waxy | Yes | Yes | Diminished | <5° | <5° |
| AD02-III:2 | c.289G>C | Het | 50 (22) | F | 0.5 | 0.6 | −1.75 DS | −2.25 DS | Yes | Waxy | Yes | Yes | Yes | Waxy | Yes | Yes | Diminished | <15° | <15° |
| AD02-III:3 | c.289G>C | Het | 47 (23) | M | 0.6 | 0.5 | −1.50 DS | −2.00 DS | Yes | Waxy | Yes | Yes | Yes | Waxy | Yes | Yes | Diminished | <15° | <15° |
| AD02-IV:1 | c.289G>C | Het | 27 (22) | M | 1.0 | 1.0 | −0.50 DS | −1.00 DS/−0.50 DC*120 | NOR | NOR | NOR | NOR | NOR | NOR | NOR | NOR | Reduced | NOR | NOR |
Abbreviations: Het: heterozygous; *: year(s); D: dead; M: male; F: female; BCVA: best corrected visual acuity; logMAR: logarithm of the minimum angle of resolution; O.D.: right eye; O.S.: left eye; NA: not available; MD: macular degeneration; OD: optic disk; AA: artery attenuation; PD: pigment deposits; NOR: normal; ERG: electroretinography; VF: visual field.