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