Table 2. Summary of clinical findings and probands BEST1 mutations.
| Patient | Mutation | Position | Missense effect | Age-Gender | Age of onset | Lesion type RE | Lesion type LE | BCVA RE | BCVA LE | Complications |
|---|---|---|---|---|---|---|---|---|---|---|
| FG01 (Family FG I) |
C>T728 heterozygous |
exon 7 |
A243V |
49-M |
41- |
atrophy |
atrophy |
20/125 |
20/160 |
- |
| FG02 (Family FG I) |
C>T728 heterozygous |
exon 7 |
A243V |
45-F |
37- |
vitelliruptive |
vitelliruptive |
20/25 |
20/25 |
- |
| FG03 (Family FG I) |
C>T728 heterozygous |
exon 7 |
A243V |
75-M |
67- |
pseudohypopion |
vitelliruptive |
20/50 |
20/125 |
- |
| FG04 (Family FG I) |
C>T728 heterozygous |
exon 7 |
A243V |
13-F |
- |
none |
none |
20/20 |
20/20 |
- |
| FG05 (Family FG I) |
C>T728 heterozygous |
exon 7 |
A243V |
17-F |
- |
none |
none |
20/20 |
20/20 |
- |
| FG06 (Family FG II) |
G>A275 heterozygous |
exon 4 |
R92G |
16-F |
11- |
fibrosis |
fibrosis |
20/160 |
20/160 |
CNV RLE |
| FG07 (Family FG II) |
G>A275 heterozygous |
exon 4 |
R92G |
3-M |
2- |
vitelliform |
vitelliform |
20/32 |
20/32 |
- |
| FG08 (Family FG III) |
C>T 274 homozygous |
exon 4 |
R92C |
16-F |
15- |
vitelliruptive+multifocal |
vitelliruptive+multifocal |
20/32 |
20/40 |
- |
| FG09 (Family FG IV) |
G>A44 heterozygous |
exon 2 |
G15D |
3-F |
2- |
vitelliform |
vitelliform |
20/25 |
20/25 |
- |
| FG10 (Family FG IV) |
G>A44 heterozygous |
exon 2 |
G15D |
30-M |
- |
none |
none |
20/20 |
20/20 |
- |
| CT01 (Family CT I) |
C>T274 heterozygous |
exon 4 |
R92C |
14-M |
8- |
fibrosis |
fibrosis |
20/50 |
20/40 |
CNV RLE |
| CT02 (Family CT II) |
T>C791 heterozygous |
exon 7 |
I230T |
11-M |
10- |
pre-vitelliform |
pre-vitelliform |
20/20 |
20/25 |
- |
| CT03 (Family CT II) |
T>C791 heterozygous |
exon 7 |
I230T |
42-F |
41- |
pre-vitelliform+multifocal |
pre-vitelliform+multifocal |
20/32 |
20/25 |
- |
| CT04 (Family CT II) |
T>C791 heterozygous |
exon 7 |
I230T |
9-M |
6- |
vitelliruptive |
vitelliruptive |
20/125 |
20/125 |
- |
| CT05 (Family CT III) |
C>T272 heterozygous |
exon 4 |
T91I |
44-M |
36- |
atrophy |
atrophy |
20/125 |
20/40 |
- |
| CT06 (Family CT III) |
C>T272 heterozygous |
exon 4 |
T91I |
19-F |
11- |
fibrosis |
fibrosis |
20/200 |
20/40 |
CNV RE |
| CT07 (Family CT IV) |
A>G10 heterozygous |
exon 2 |
T4A |
27-F |
20- |
atrophy |
none |
20/50 |
20/25 |
- |
| CT08 (Family CT IV) |
A>G10 heterozygous |
exon 2 |
T4A |
23-F |
16- |
pseudohypopion |
atrophy |
20/32 |
20/50 |
CNV LE |
| CT09 (Family CT V) |
C>T73 heterozygous |
exon 2 |
R25W |
10-F |
9 |
vitelliruptive |
fibrosis |
20/20 |
20/200 |
- |
| CT10 (Family CT V) |
C>T73 heterozygous |
exon 2 |
R25W |
36-F |
30- |
vitelliruptive |
vitelliruptive |
20/63 |
20/63 |
- |
| CT11 (Family CT V) |
C>T73 heterozygous |
exon 2 |
R25W |
70-M |
60- |
pseudohypopion |
none |
20/50 |
20/20 |
- |
| CT12 (Family CT VI) |
T>C26 heterozygous |
exon 2 |
V9A |
44-M |
7- |
atrophy |
fibrosis |
20/50 |
20/200 |
- |
| CT13 (Family CT VI) | T>C26 heterozygous | exon 2 | V9A | 12-F | 12- | pre-vitelliform | pre-vitelliform | 20/20 | 20/20 | - |
Abbreviations: M represents male; F represents female; RE represents right eye; LE represents left eye; BCVA represents best corrected visual acuity; CNV represents choroidal neovascularization.