Table 1 Clinical characteristics and genetic variants in the RDH5 gene of the recruited individuals
From: Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus
Patients | Age, y | Gender | BCVA | Nucleotide Change (NM_002905.5) | Amino Acid Change (NP_002896.2) | |
|---|---|---|---|---|---|---|
OD | OS | |||||
II:2 | 63 | F | 20/60 | 20/40 | c.39delA c.683G > A c.710A > G | p.(Val14CysfsX47) p.(Arg228Gln) p.(Tyr237Cys) |
II:5 | 57 | F | 20/40 | 20/40 | c.39delA c.683G > A c.710A > G | p.(Val14CysfsX47) p.(Arg228Gln) p.(Tyr237Cys) |
II:8 | 54 | F | 20/100 | 20/80 | c.39delA c.683G > A c.710A > G | p.(Val14CysfsX47) p.(Arg228Gln) p.(Tyr237Cys) |
II:11 | 51 | M | 20/25 | 20/25 | – | – |
III:1 | 38 | M | 20/20 | 20/20 | c.39delA | p.(Val14CysfsX47) |
III:8 | 32 | M | 20/20 | 20/20 | c.683G > A c.710A > G | p.(Arg228Gln) p.(Tyr237Cys) |