TABLE.
Patient | Age(y)/ Gender |
BCVA (OD; OS) |
Refractive error, diopters (OD;OS) |
Phenotype | Affected Gene |
Allele 1 | Allele 2 | Source |
---|---|---|---|---|---|---|---|---|
JC_0677 | 23/F | 20/12; 20/12 | −1.50 sphere; −1.50 sphere |
Normal | ND | ND | ND | This Study |
DH_0491 | 41/M | 20/16; 20/16 | No correction | Oguchi Disease | GRK1 | c. 1129G>C, p.Ala377Pro | c.1139T>A, p.Val380Asp | This Study |
DH_0819 | 47/M | 20/32; 20/25 | + 0.25 sphere; No correction |
Oguchi Disease | GRK1 | c. 1129G>C, p.Ala377Pro | c.1139T>A, p.Val380Asp | This Study |
JC_0550 | 30/F | 20/16; 20/16 | −0.75/0.75 × 30; −0.50 sphere |
complete congenital stationary night blindness |
GRM6 | c.172G>A, p.Gly58Arg | IVS2-1G>T (c.722-1G>T) | This Study |
JC_0682 | 13/F | 20/32; 20/20 | −1.00/−1.25 × 105; −0.50/−2.50 × 50 |
complete congenital stationary night blindness |
GRM6 | c.2267G>A, p.Gly756Asp | c.2267G>A, p.Gly756Asp | Ref. 42 |
JC_0684 | 32/F | 20/30; 20/30 | −0.50/−1.00 × 80; −0.50/−1.50 × 105 |
complete congenital stationary night blindness |
GRM6 | c.2029C>T, p.Arg677Cys | c.2029C>T, p.Arg677Cys | Ref. 42 |
F = female; M = male; BCVA = best-corrected visual acuity; OD = right eye; OS = left eye; ND = not done.