Table 1 Demographical, clinical, and genetic sequencing information of the patient cohort analyzed in the study.
Patient ID | Age | Disease stage | BCVA | BEST1 variant | |||
|---|---|---|---|---|---|---|---|
OD | OS | OD | OS | cDNA | Protein | ||
1 | 33 | Pseudohypopyon | Pseudohypopyon | 20/70 | 20/70 | c.473G > A | p.R158H |
2 | 53 | Vitelliruptive | Vitelliruptive | 20/80 | 20/70 | c.253T > C | p.Y85H |
3 | 57 | Atrophic | Atrophic | 20/100 | 20/60 | c.253T > C | p.Y85H |
4 | 43 | Vitelliruptive | Vitelliruptive | 20/50 | 20/50 | c.877C > A | p.Q293K |
5 | 73 | Pseudohypopyon | Atrophic | 20/60 | 20/400 | c.896G > A | p.Q299E |
6 | 23 | Vitelliruptive | Vitelliruptive | 20/20 | 20/20 | c.887A > G | p.N296S |
7 | 61 | Atrophic | Atrophic | 20/100 | 20/100 | c.887A > G | p.N296S |
8 | 57 | Atrophic | Atrophic | 20/70 | 20/70 | c.89A > G | p.K30R |
9 | 49 | Vitelliruptive | Atrophic | 20/50 | 20/60 | c.900G > C | p.E300D |
10 | 60 | Vitelliruptive | Vitelliruptive | 20/40 | 20/50 | c.274C > T | p.R92C |
11 | 32 | Vitelliruptive | Vitelliruptive | 20/50 | 20/30 | c.727G > A | p.A243T |
12 | 77 | Atrophic | Atrophic | 20/80 | 20/80 | c.602T > C | p.I201T |
13 | 43 | Vitelliruptive | Vitelliruptive | 20/30 | 20/20 | c.652C > T | p.R218C |
14 | 59 | Vitelliruptive | Vitelliruptive | 20/150 | 20/70 | c.653G > A | p.R218H |
15 | 45 | Vitelliform | Vitelliform | 20/30 | 20/25 | c.653G > A | p.R218H |
16 | 12 | Pseudohypopyon | Pseudohypopyon | 20/80 | 20/25 | c.28G > A | p.A10T |
17 | 44 | Vitelliform | Previtelliform | 20/25 | 20/20 | c.884T > C | p.I295T |
18 | 42 | Atrophic | Atrophic | 20/400 | 20/400 | c.218T > A | p.I73N |
19 | 34 | Vitelliruptive | Vitelliruptive | 20/20 | 20/20 | c.727G > A | p.A243T |
20 | 60 | Atrophic | Atrophic | 20/125 | 20/125 | c.250T > G | p.F84V |
21 | 15 | Pseudohypopyon | Pseudohypopyon | 20/20 | 20/20 | c.701T > C | p.L234P |
22 | 57 | Atrophic | Vitelliruptive | 20/400 | 20/80 | c.652C > T | p.R218C |
