Table 2. Phenotypical Characteristics of Carriers and Noncarriers of Rare CFH Variants.
| Phenotypic Characteristic | No. of Eyes (%) | Odds Ratio (95% CI)a | P Value | |
|---|---|---|---|---|
| Noncarrier (n = 204) |
Carrier (n = 100) |
|||
| Predominant drusen type within ETDRS grid | ||||
| None or small drusen (<63 µm) | 32 (15.7) | 12 (12.0) | 1 [Reference] | .31 |
| Intermediate drusen (63-125 µm) | 107 (52.5) | 45 (45.0) | 1.12 (0.47-2.68) | |
| Large drusen (>125 µm) | 65 (31.9) | 43 (43.0) | 1.76 (0.71-4.38) | |
| Largest drusen type within central field | ||||
| None or small drusen (<63 µm) | 106 (52.5) | 44 (44.9) | 1 [Reference] | .58 |
| Intermediate drusen (63-125 µm) | 77 (38.1) | 44 (44.9) | 1.38 (0.75-2.52) | |
| Large drusen (>125 µm) | 19 (9.4) | 10 (10.2) | 1.27 (0.46-3.48) | |
| Proportion of grid area covered by drusen, % | ||||
| 0-10 | 111 (54.4) | 27 (27.3) | 1 [Reference] | .004b |
| 10-25 | 61 (29.9) | 41 (41.4) | 2.76 (1.36-5.63) | |
| 25-50 | 29 (14.2) | 26 (26.3) | 3.69 (1.58-8.58) | |
| >50 | 3 (1.5) | 5 (5.1) | 6.85 (1.37-34.37) | |
| Extramacular drusen | ||||
| Absent | 54 (26.6) | 19 (19.2) | 1 [Reference] | .27 |
| Present | 149 (73.4) | 80 (80.8) | 1.53 (0.72-3.24) | |
| Drusen nasal to the optic disc | ||||
| None or small drusen (<63 µm) | 89 (65.0) | 45 (56.3) | 1 [Reference] | .47 |
| Intermediate drusen (63-125 µm) | 46 (33.6) | 32 (40.0) | 1.38 (0.69-2.74) | |
| Large drusen (>125 µm) | 2 (1.5) | 3 (3.8) | 2.97 (0.30-29.51) | |
| Reticular drusen | ||||
| Absent | 163 (86.7) | 83 (93.3) | 1 [Reference] | .14 |
| Present | 25 (13.3) | 6 (6.7) | 0.47 (0.18-1.27) | |
| Drusen with crystalline appearance | ||||
| Absent | 178 (89.4) | 76 (81.7) | 1 [Reference] | .15 |
| Present | 21 (10.6) | 17 (18.3) | 1.90 (0.80-4.48) | |
| SPED | ||||
| Absent | 199 (97.5) | 84 (89.4) | 1 [Reference] | .02 |
| Present | 5 (2.5) | 10 (10.6) | 4.74 (1.30-17.31) | |
| RPE pigmentation | ||||
| Absent | 84 (45.4) | 31 (32.3) | 1 [Reference] | .08 |
| Present | 101 (54.6) | 65 (67.7) | 1.74 (0.93-3.27) | |
| Geographic atrophy | ||||
| Absent | 154 (76.2) | 65 (70.7) | 1 [Reference] | .42 |
| Present | 48 (23.8) | 27 (29.3) | 1.33 (0.66-2.69) | |
| Neovascular AMD | ||||
| Absent | 144 (72.4) | 79 (82.3) | 1 [Reference] | .12 |
| Present | 55 (27.6) | 17 (17.7) | 0.56 (0.28-1.15) | |
Abbreviations: AMD, age-related macular degeneration; CFH, complement factor H; ETDRS, Early Treatment Diabetic Retinopathy Study; RPE, retinal pigment epithelium; SPED, serogranular/serous drusen pigment epithelium detachment.
a
The presented odds ratios result from univariable generalized estimating equations logistic regression analyses.
b
P value remained significant after Bonferroni correction for multiple testing.