Table 1 of Verdina, Mol Vis 2021; 27:78-94.
ID | Age | Sex | Eye | Onset | BCVA logMar | Snellen | sph eq. | Affected sector | GENE/cDNA(protein) |
---|---|---|---|---|---|---|---|---|---|
P1 (AG)* | 69 | F | R | 40 | 0 | 20/20 | 0 | INF, NAS | RHO /c.568G>A(p.Asp190Asn) |
L | 0 | 20/20 | 0 | INF, NAS | |||||
P2 (AM)* | 65 | M | R | 36 | 0 | 20/20 | -2 | INF | RHO /c.568G>A(p.Asp190Asn) |
L | 0 | 20/20 | -2 | INF | |||||
P3 (BA) | 53 | F | R | 46 | 0.1 | 20/25 | -2.5 | INF | |
L | 0.3 | 20/40 | -3.5 | INF | |||||
P4 (FO) | 77 | F | R | 69 | 0.52 | 20/60 | 3.5 | INF, NAS | |
L | 0.1 | 20/25 | 0.75 | INF, NAS | |||||
P5 (FA) | 57 | M | R | 44 | 0 | 20/20 | 0 | INF | RHO/c.568G>A(p.Asp190Asn) |
L | 0 | 20/20 | 0 | INF | |||||
P6 (GL) | 64 | M | R | 62 | 0 | 20/20 | 0 | INF, TEMP | RHO /c.568G>A(p.Asp190Asn) |
L | 0 | 20/20 | -1.25 | INF, TEMP | |||||
P7 (PP) | 58 | F | R | 50 | 0 | 20/20 | 2 | INF,TEMP,NAS | |
L | 0 | 20/20 | 2.25 | INF,TEMP,NAS | |||||
P8 (RM) | 40 | F | R | 40 | 0 | 20/20 | 0 | INF | RHO /c.548T>C (p.Leu183Pro) |
L | 0 | 20/20 | 0 | INF | |||||
P9 (SA)** | 63 | M | R | 52 | 0 | 20/20 | 0.5 | INF | RHO /c.568G>A (p.Asp190Asn) |
L | 0 | 20/20 | 0.5 | INF | |||||
P10 (SE)** | 19 | F | R | 11 | 0 | 20/20 | 0.75 | INF, TEMP | |
L | 0 | 20/20 | 0.25 | INF, TEMP | |||||
P11 (SF)** | 23 | F | R | 21 | 0 | 20/20 | -0.75 | INF, NAS | RHO /c.568G>A (p.Asp190Asn) |
L | 0 | 20/20 | -0.5 | INF, NAS | |||||
P12 (SL)** | 22 | F | R | 21 | 0 | 20/20 | 0 | NAS | RHO /c.568G>A (p.Asp190Asn) |
L | 0 | 20/20 | 0 | TEMP | |||||
P13(SM)** | 57 | M | R | 48 | 0 | 20/20 | 0 | INF | RHO /c.568G>A (p.Asp190Asn) |
L | 0 | 20/20 | 0 | INF | |||||
P14 (SS)** | 29 | F | R | 28 | 0 | 20/20 | -2 | INF | RHO /c.568G>A (p.Asp190Asn) |
L | 0 | 20/20 | -2 | INF | GUCY2D /c.2179G>A (p.Gly727Ser) | ||||
P15 (TA) | 56 | M | R | 50 | 0.4 | 20/50 | -8 | INF | USH2A/c.2173G>C(p.Gly713Arg); ROM1 /c.178C>A (p.Pro60Thr)c.323C>T (p.Thr108Met) |