Table 1 Demographic and clinical characteristics of Korean patients with PROM1-related retinal degeneration.
From: Genetic and clinical characteristics of PROM1-related retinal degeneration in Korean
Patient no. | Family no. | Variant | Age | Presenting symptoms | Age at onset | Visual acuity | Ocular phenotype | Macular findings | Peripheral findings | Electrophysiologic findings |
|---|---|---|---|---|---|---|---|---|---|---|
1 | 1 | p.R373C | 37 | DV | 4th decade | 0.6 OU | Mainly MD/CRD | BEM OU | No available data | Rod: moderately decreased Cone: moderately decreased |
2 | 2 | p.R373C | 34 | DV | 3rd decade | 0.15 OD 0.5 OS | Mainly MD/CRD | GA OD BEM OS | No available data | Rod: moderately decreased Cone: moderately decreased |
3 | 3 | p.R373C | 32 | – | – | 1.0 OU | Mainly MD/CRD | BEM OU | Mild degeneration without BSP | Rod: mildly decreased Cone: moderately decreased |
4 | 3 | p.R373C | 30 | – | – | 1.0 OU | Mainly RP | BEM OU | Degeneration with BSP | Rod: extinguished Cone: severely decreased |
5 | 4 | p.R373C | 70 | NB | 3rd decade | 1.0 OU | Mainly RP | BEM OU | Degeneration with BSP | Not available |
6 | 4 | p.R373C | 40 | DV, NB | 4th decade | 0.6 OD 0.5 OS | Mainly MD/CRD | BEM OU | Degeneration with BSP | Rod: extinguished Cone: severely decreased |
7 | 5 | p.R373C | 40 | DV | 4th decade | 0.4 OD 0.1 OS | Mainly MD/CRD | BEM OU | Mild degeneration without BSP | Rod: moderately decreased Cone: moderately decreased |
