Table 4 of
Sodi, Mol Vis 2012; 18:2736-2748.
Table 4. Electrophysiological and molecular results of the VMD patients included in the study (families H-S). For each eye Arden ratio is indicated.
Family | Family Member | EOG OD | EOG OS | Allele1 | Allele2 |
---|---|---|---|---|---|
H | I-1 | 1.40 | 1.42 | p.Arg25Trp | WT |
H | II-1 | 1.55 | 1.48 | p.Arg25Trp | WT |
H | II-2 | 1.50 | 1.55 | p.Arg25Trp | WT |
I | II-1 | 1.25 | 1.30 | p.Arg25Trp | WT |
I | I-1 | 1.45 | 1.40 | p.Arg25Trp | WT |
I | II-2 | 1.93 | 2.10 | WT | WT |
J | III-1 | 1.15 | 1.22 | p.Arg218Cys | WT |
J | II-2 | 1.48 | 1.35 | p.Arg218Cys | WT |
J | II-3 | 1.23 | 1.45 | p.Arg218Cys | WT |
J | I-1 | 1.25 | 1.15 | p.Arg218Cys | WT |
K | I-2 | 1.14 | 1.02 | p.Arg218Cys | WT |
K | II-1 | 1.20 | 1.15 | p.Arg218Cys | WT |
K | I-3 | 2.10 | 2.39 | WT | WT |
K | II-2 | 2.22 | 2.10 | WT | WT |
K | II-3 | 2.25 | 2.40 | WT | WT |
L | II-1 | 1.30 | 1.09 | p.Arg218Cys | WT |
M | II-1 | 1.23 | 1.41 | p.Ile295del | WT |
N | III-1 | 1.40 | 1.45 | p.Asp304Gly | WT |
N | II-3 | 1.49 | 1.32 | p.Asp304Gly | WT |
O | II-1 | 1.18 | 1.22 | p.Ala234Val | WT |
P | II-1 | 1.36 | 1.26 | p.Arg25Trp | WT |
Q | I-2 | 1.23 | 1.43 | p.Arg25Trp | WT |
Q | II-1 | 2.51 | 2.80 | WT | WT |
R | II-1 | 1.45 | 1.48 | p.Phe80Cys | WT |
S | II-1 | 1.34 | 1.42 | p.Asp303Asn | WT |