Table 1 of
Alexander, Mol Vis 2014; 20:1253-1257. Table 1 of
Alexander, Mol Vis 2014; 20:1253-1257.
Table 1. Demographic data and clinical features of cases and controls found to be positive for the CFI variants p. Gly119Arg (risk allele A) and p. Gly188Ala (risk allele C).
| Cohort | CFI p.Gly119Arg | CFI p.Gly188Ala | M/F | Age | Clinical appearance | Family History | CFH rs1061170 | C3 rs2230199 | |
|---|---|---|---|---|---|---|---|---|---|
| Right Eye | Left Eye | ||||||||
| Southampton | A G | G G | F | 64 | CNV causing PED, resulting in severe central visual loss | CNV causing PED, treated with anti-VEGF intravitreal injections | C T | C C | |
| Southampton | A G | G G | M | 80 | Dry AMD | Left CNV, visual loss | C T | G C | |
| Southampton | A G | G G | M | 95 | GA with foveal involvement | GA with foveal involvement | T T | C C | |
| Guernsey | A G | G G | M | 79 | Drusen and GA involving fovea | Disciform scar with surrounding hemorrhage | C C | G C | |
| Guernsey | A G | G G | F | 63 | Disciform scar | Disciform scar | Brother & mother had wet AMD | C T | G C |
| Guernsey | A G | G G | F | 92 | GA with foveal involvement | GA with foveal involvement | Not available | Not available | |
| Guernsey | A G | G G | F | 87 | Dry AMD | Dry AMD | Not available | Not available | |
| Guernsey | G G | G C | M | 81 | CNV | CNV | Uncle: sight problems | C T | G C |
| Control | A G | G G | M | 58 | Normal retinal examination | T T | G C | ||
| Control | G G | G C | F | 78 | Normal retinal examination | C T | C C | ||