Table 3. Associations of Phenotypical Characteristics With Confirmed Pathogenic Rare CFH Variants.
| Phenotypic Characteristic | No. of Eyes (%) | Odds Ratio (95% CI)a | P Value | |
|---|---|---|---|---|
| Noncarrier (n = 204) |
Carrier (n = 48) |
|||
| Predominant drusen type within ETDRS grid | ||||
| None or small drusen (<63 µm) | 32 (15.7) | 4 (8.3) | 1 [Reference] | .06 |
| Intermediate drusen (63-125 µm) | 107 (52.5) | 18 (37.5) | 1.35 (0.34-5.38) | |
| Large drusen (>125 µm) | 65 (31.9) | 26 (54.2) | 3.20 (0.80-12.75) | |
| Largest drusen type within central field | ||||
| None or small drusen (<63 µm) | 106 (52.5) | 24 (50.0) | 1 [Reference] | .97 |
| Intermediate drusen (63-125 µm) | 77 (38.1) | 19 (39.6) | 1.16 (0.29-4.66) | |
| Large drusen (>125 µm) | 19 (9.4) | 5 (10.4) | 1.09 (0.50-2.39) | |
| Proportion of grid area covered by drusen, % | ||||
| 0-10 | 111 (54.4) | 6 (12.5) | 1 [Reference] | .002b |
| 10-25 | 61 (29.9) | 23 (47.9) | 6.98 (2.04-23.89) | |
| 25-50 | 29 (14.2) | 16 (33.3) | 10.21 (2.85-36.59) | |
| >50 | 3 (1.5) | 3 (6.3) | 18.50 (2.19-155.99) | |
| Any drusen outside grid | ||||
| Absent | 54 (26.6) | 6 (12.5) | 1 [Reference] | .11 |
| Present | 149 (73.4) | 42 (87.5) | 2.54 (0.80-8.04) | |
| Drusen nasal to the optic disc | ||||
| None or small drusen (<63 µm) | 89 (65.0) | 12 (30.8) | 1 [Reference] | .003b |
| Intermediate drusen (63-125 µm) | 46 (33.6) | 25 (64.1) | 4.03 (1.70-9.56) | |
| Large drusen (>125 µm) | 2 (1.5) | 2 (5.1) | 7.42 (0.65-84.84) | |
| Reticular drusen | ||||
| Absent | 163 (86.7) | 43 (93.5) | 1 [Reference] | .23 |
| Present | 25 (13.3) | 3 (6.5) | 0.46 (0.13-1.64) | |
| Drusen with crystalline appearance | ||||
| Absent | 178 (89.4) | 34 (72.3) | 1 [Reference] | .02 |
| Present | 21 (10.6) | 13 (27.7) | 3.24 (1.24-8.50) | |
| SPED | ||||
| Absent | 199 (97.5) | 43 (91.5) | 1 [Reference] | .11 |
| Present | 5 (2.5) | 4 (8.5) | 3.70 (0.74-18.63) | |
| RPE pigmentation | ||||
| Absent | 84 (45.4) | 13 (28.3) | 1 [Reference] | .10 |
| Present | 101 (54.6) | 33 (71.7) | 2.11 (0.87-5.14) | |
| Geographic atrophy | ||||
| Absent | 154 (76.2) | 28 (65.1) | 1 [Reference] | .23 |
| Present | 48 (23.8) | 15 (34.9) | 1.72 (0.71-4.14) | |
| Neovascular AMD | ||||
| Absent | 144 (72.4) | 38 (82.6) | 1 [Reference] | .23 |
| Present | 55 (27.6) | 8 (17.4) | 0.55 (0.21-1.47) | |
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.