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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)
  1. M Male, F Female, OD The right eye, OS The left eye, BCVA Best corrected visual acuity