Table 2 of Querques, Mol Vis 2009; 15:2960-2972. Table 2 of Querques, Mol Vis 2009; 15:2960-2972.
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 | - |