Table 2 of
Trang, Mol Vis 2022; 28:480-491. Table 2 of
Trang, Mol Vis 2022; 28:480-491.
Table 2. Genotype-phenotype correlation of probands.
| Patient ID | Variants | Retinal vascular anomalies | Strabismus | Exudation | Retinal detachment | Nystagmus | Cataract | Asymmetry | Others | ||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Gene | cDNA change | Amino acid change | |||||||||
| EVR-05 | FZD4 | c.1282_1285del | p.(D428Sfs*1) | + | + | - | + | + | - | - | - |
| EVR-14 | FZD4 | c.313A>G | p.(M105V) | + | + | - | - | + | + | - | - |
| EVR-18 | FZD4 | c.169G>C | p.(G57R) | + | + | + | - | - | - | - | - |
| EVR-10 | NDP | c.112C>T | p.(R38C) | + | + | + | - | - | - | + | - |
| EVR-15 | NDP | c.131A>G | p.(Y44C) | + | - | - | + | + | - | + | band keratopathy, microphthalmia (left eye) |
| EVR-19 | NDP | c.175-3A>G | Splicing | + | + | - | - | - | - | - | - |
| EVR-20 | NDP | Exon 2 deletion | + | + | - | + | - | + | - | - | |
| EVR-07 | KIF11 | c.2146C>T | p.(Q716*) | + | + | - | - | + | - | - | retinal fibrosis |
| EVR-08 | KIF11 | c.388-1G>C | Splicing | + | + | - | + | - | + | - | - |
| EVR-11 | KIF11 | c.2511_2515del | p.(N838Kfs*17) | + | + | - | - | - | + | - | microphthalmia |
| EVR-06 | ATOH7 | c.145G>T | p.(E49*) | + | + | + | - | - | - | - | - |
| EVR-16 | ATOH7 | c.145G>T | p.(E49*) | + | + | - | + | - | - | - | - |