Table 1 of
Querques, Mol Vis 2014; 20:575-592. Table 1 of
Querques, Mol Vis 2014; 20:575-592.
Table 1. Clinical characteristics of 21 patients with Best vitelliform macular dystrophy at baseline and during the progression of the disease.
| Family | Case | Age | Gender | BEST1 mutation | Eye | Follow up (mo) | BCVA Baseline, ETDRS LogMAR | Disease stage Baseline | BCVA Follow-up, ETDRS LogMAR | Disease stage Follow-up |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | Case1 | 18 | F | exon 2; p.Ala10Thr | R | 61 | 0.2 | pseudohypopyon | 0.2 | pseudohypopyon |
| L | 0.1 | vitelliruptive | 0.1 | vitelliruptive | ||||||
| 1 | Case2 | 44 | F | exon 2; p.Ala10Thr | R | 61 | 0.4 | vitelliform | 0.4 | vitelliform |
| L | 1 | pseudohypopyon | 1 | vitelliruptive | ||||||
| 2 | Case3 | 23 | M | exon 2 p.Ala10Val | R | 38 | 0.7 | fibrotic | 0.7 | fibrotic |
| L | 0.8 | fibrotic | 0.8 | fibrotic | ||||||
| 2 | Case4 | 50 | M | exon 2 p.Ala10Val | R | 38 | 1 | atrophic | 1 | atrophic |
| L | 1 | atrophic | 1 | atrophic | ||||||
| 3 | Case5 | 11 | M | exon 4 p.Thr91Ile | R | 24 | 0.1 | vitelliruptive | 0.1 | pseudohypopyon |
| L | 0.1 | pseudohypopyon | 0.1 | vitelliruptive | ||||||
| 3 | Case6 | 20 | F | exon 4 p.Thr91Ile | R | 24 | 1 | fibrotic | 1 | fibrotic |
| L | 0.6 | fibrotic | 0.6 | fibrotic | ||||||
| 3 | Case7 | 45 | M | exon 4 p.Thr91Ile | R | 24 | 0.7 | atrophic | 0.7 | atrophic |
| L | 0.3 | atrophic | 0.3 | atrophic | ||||||
| 4 | Case8 | 41 | M | exon 2 p.Val9Ala | R | 50 | 0.4 | fibrotic | 0.4 | fibrotic |
| L | 1 | fibrotic | 1 | fibrotic | ||||||
| 4 | Case9 | 12 | F | exon 2 p.Val9Ala | R | 50 | 0 | previtelliform | 0 | previtelliform |
| L | 0 | previtelliform | 0 | previtelliform | ||||||
| 5 | Case10 | 36 | F | exon 2 p.Arg25Trp | R | 51 | 0.5 | vitelliruptive | 0.5 | vitelliruptive |
| L | 0.5 | vitelliruptive | 0.5 | vitelliruptive | ||||||
| 5 | Case11 | 11 | F | exon 2 p.Arg25Trp | R | 51 | 0.1 | vitelliruptive | 0 | vitelliruptive |
| L | 1 | fibrotic | 0.4 | fibrotic | ||||||
| 5 | Case12 | 71 | M | exon 2 p.Arg25Trp | R | 12 | 0.4 | pseudohypopyon | 0.4 | pseudohypopyon |
| L | 0 | previtelliform | 0 | previtelliform | ||||||
| 6 | Case13 | 14 | M | exon 4 p.Arg92Cys | R | 72 | 0.4 | fibrotic | 0.4 | fibrotic |
| L | 0.3 | vitelliruptive | 0.3 | pseudohypopyon | ||||||
| 6 | Case14 | 9 | M | exon 4 p.Arg92Cys | R | 35 | 0 | previtelliform | 0 | previtelliform |
| L | 0 | previtelliform | 0 | previtelliform | ||||||
| 6 | Case15 | 17 | M | exon 4 p.Arg92Cys | R | 12 | 0 | previtelliform | 0 | previtelliform |
| L | 0 | previtelliform | 0 | previtelliform | ||||||
| 6 | Case16 | 20 | F | exon 4 p.Arg92Cys | R | 12 | 0 | fibrotic | 0 | fibrotic |
| L | 0 | pseudohypopyon | 0 | vitelliruptive | ||||||
| 7 | Case17 | 47 | F | exon 7 p.Ile230Thr | R | 63 | 0.2 | previtelliform + multifocal | 0.2 | previtelliform + multifocal |
| L | 0.1 | previtelliform + multifocal | 0.1 | previtelliform + multifocal | ||||||
| 7 | Case18 | 8 | M | exon 7 p.Ile230Thr | R | 63 | 0.2 | pseudohypopyon | 0.2 | pseudohypopyon |
| L | 0.2 | vitelliruptive | 0.2 | pseudohypopyon | ||||||
| 7 | Case19 | 6 | F | exon 7 p.Ile230Thr | R | 23 | 0 | previtelliform | 0 | previtelliform |
| L | 0 | previtelliform | 0 | previtelliform | ||||||
| 8 | Case20 | 27 | F | exon 2 p.Thr4Ala | R | 50 | 0.4 | fibrotic | 0.4 | fibrotic |
| L | 0.1 | none | 0.1 | none | ||||||
| 8 | Case21 | 23 | F | exon 2 p.Thr4Ala | R | 50 | 0.2 | vitelliruptive | 0.2 | vitelliruptive |
| L | 0.4 | fibrotic | 0.4 | fibrotic |