Table 1. Clinical features of RDH12-induced retinal degeneration caused by the mutation of 146C>T (p.T49M) from the published literatures.
Patient No. | Age (y) | Onset age (y) | Gender | Visual acuity | ERG | Fundus | Diagnosis | Author&year |
1 | 28 | 3 | NA | OD:0.15 OS: 0.10 | Extinguished | Typical RP | RP | Valverde, 2009 |
2 | 13 | NA | F | 0.1 | Diminished | NA | CORD | Beryozkin, 2014 |
3 | 12 | NA | F | NA | Diminished | NA | CORD | Beryozkin, 2014 |
4 | 11 | NA | F | 0.05 | Diminished | NA | CORD | Beryozkin, 2014 |
5 | 9 | NA | F | 0.1 | Diminished | NA | CORD | Beryozkin, 2014 |
6 | 7 | NA | M | 0.05 | Diminished | NA | CORD | Beryozkin, 2014 |
7 | 4 | NA | F | NA | Diminished | NA | CORD | Beryozkin, 2014 |
8 | 22 | 10 | M | OD: 0.1, OS:0.1 | Extinguished | Bilateral coloboma-like atrophic macular chorioretinal scars with RPE hyperplasia | LCA | Yücel-Yılmaz, 2014 |
9 | 20 | 8 | M | OD: 0.05, OS: 0.05 | Extinguished | Bilateral coloboma-like atrophic macular chorioretinal scars with RPE hyperplasia | LCA | Yücel-Yılmaz, 2014 |
10 | 18 | 6 | M | OD: 0.1, OS: 0.5 | Extinguished | Bilateral coloboma-like atrophic macular chorioretinal scars with RPE hyperplasia | LCA | Yücel-Yılmaz, 2014 |
11 | 11 | 5 | F | OD: 0.1, OS: 0.5 | Extinguished | Bilateral coloboma-like atrophic macular chorioretinal scars with RPE hyperplasia | LCA | Yücel-Yılmaz, 2014 |
12 | 5 | 2 | M | OD:HM, OS: 0.32 | Extinguished | Bilateral coloboma-like atrophic macular chorioretinal scars with RPE hyperplasia | LCA | Yücel-Yılmaz, 2014 |
13 | 30 | NA | M | OD: 0.04, OS: 0.12 | Extinguished | Details in Results | Late onset RD | Current study |
Patient No.8-12 used the logMAR vision chart (already converted), and the visual acuity chart used for the remaining patients was not mentioned in the original articles. M: Male; F: Female; OD: Right eye; OS: Left eye; NA: Not available; RPE: Retinal pigment epithelium; RP: Retinitis pigmentosa; LCA: Leber's congenital amaurosis; CORD: Cone-rod dystrophy; ERG: Electroretinogram; RD: Late-onset and asymmetric retinal degeneration; HM: Hand motion.