Table 1 of
Tian, Mol Vis 2014; 20:1594-1604. Table 1 of
Tian, Mol Vis 2014; 20:1594-1604.
Table 1. Clinical features of patients with mutations in the BEST1 gene
| Family | Patient | Age/ Gender | Age at onset | BCVA (R,L) | Fundus finding | EOG Arden ratio | ERG | Genotype |
|---|---|---|---|---|---|---|---|---|
| A | II:1 | 32Y/M | 21Y | 20/40 20/32 | OD pseudohypopyon OS vitelliruptive | NA | NA | p.Q293H/+ |
| B | II:1 | 6Y/M | 4Y | 20/40 20/50 | OU vitelliform lesion | NA | NA | p.R218C/+ |
| C | I:1 | 36Y/M | 30Y | 20/50 20/50 | OU pseudohypopyon | OD 1.32 OS 1.25 | Normal | p.T4I/+ |
| C | II:1 | 10Y/F | 9Y | 20/40 20/40 | OD pseudohypopyon OS vitelliruptive | OD 1.28 OS 1.30 | Normal | p.T4I/+ |
| D | II:1 | 45Y/M | 42Y | 20/40 20/32 | OD pseudohypopyon OS vitelliform lesion | OD 1.34 OS 1.21 | Normal | p.D301G/+ |
| E | II:1 | 58Y/F | 50Y | 20/32 20/100 | OU pseudohypopyon | NA | NA | p.A291V/+ |
| F | III:1 | 26Y/ M | 25Y | 20/32 20/40 | OU pseudohypopyon | NA | NA | p.R218C/+ |
| G | II:1 | 6Y/M | 5Y | 20/200 20/63 | OD subretinal fibrosisi OS subretinal fibrosisi; yellowish deposits | OD 0.95 OS 1.18 | Reduced scotopic and photopic responses | p.M163R/p.M163R |
| H | II:1 | 26Y/M | 23Y | 20/63 20/200 | OU yellowish deposits | OD 1.11 OS 1.23 | Reduced scotopic and photopic responses | p.R130L/p.R130L |
| I | II:1 | 11Y/M | 8Y | 20/32 20/32 | OU macular scar | NA | NA | c.519delA/p.W287* |
| J | II:2 | 11Y/F | 9Y | 20/200 20/40 | OD macular scar OS vitelliruptive | NA | NA | p.Y33H/p.R255W |
| K | II:2 | 15Y/M | 11Y | 20/63 20/400 | OU hyperpigmented scar | OD 1.20 OS 1.32 | Normal | p.R13H/p.A195V |
| L | II:1 | 25Y | 22Y | 20/50 20/40 | OD pseudohypopyon OS vitelliform lesion | NA | NA | p.A195V/p.R255W |