Table 1 of
Fiorentino, Mol Vis 2018; 24:603-612. Table 1 of
Fiorentino, Mol Vis 2018; 24:603-612.
Table 1. Homozygous variants in ARL2BP and their associated phenotype.
| Family/Patient | Variant | Situs inversus | Age of diagnoses | Visual acuity (Logmar, Snellen) | Macula involvement | Partial WT expression | |
|---|---|---|---|---|---|---|---|
| RE | LE | ||||||
| GC19277/IV-3 [10] | c.134T>G, p. Met45Arg | ✗ | 20s | 0.25 (20/36) | 0.5 (20/63) | ✓ | NR |
| MOL0807/IV-1 [10] | c.101–1G>C | ✓ | 20s | HM | PL | ✓ | NR |
| MOL0807/IV-2 [10] | c.101–1G>C | ✓ | 20s | 0.2 (20/32) | 0.4 (20/40) | ✓ | NR |
| MOL0807/IV-3 [10] | c.101–1G>C | ✗ | 20s | NR | NR | ✓ | ✓ |
| CIC01154 [11] | c.207+1G>T | ✗ | teens | 1 (20/200) | CF | ✓ | ✗ |
| CIC01155 [11] | c.207+1G>T | ✗ | teens | 0.097 (20/25) | 0.097 (20/25) | ✓ | NR |
| 1/1-II:4 | c.390+5G>A | NR | 35 | 0.04 (20/20) | 0.02 (20/20) | ✗ | ✓ |
| 2/2-III:2 (GC21134) | c.207+1G>A | NI | 36 | 0.74 (20/110) | 0.62 (20/83) | ✓ | ✗ |