Table 2.
Comparison of Phenotypic Features between Carriers and Noncarriers of COL8A1 Variants in the Rotterdam Study
| Protein Change | COL8A1 Variant and Age-Related Macular Degeneration (n = 16) | COL8A1 Variant, No Age-Related Macular Degeneration (n = 11) | No COL8A1 Variant and Age-Related Macular Degeneration (n = 450) |
|---|---|---|---|
| Age at last visit (yrs) | 79.6 (SD, 6.3) | 82.5 (SD, 7.9) | 80.0 (SD, 6.5) |
| Spherical equivalent | –0.37 (SD, 1.86)∗ | 1.14 (SD, 1.83) | 1.26 (SD, 2.29)∗ |
| Mild myopia (–3 to –6 D; %) | 3/16 (19) | 1/11 (9) | 23/437 (5) |
| Severe myopia (≤ –6 D; %) | 0/16 (0) | 0/11 (0) | 2/437 (0) |
| Corneal curvature (mm) | 7.72 (SD, 0.32) | 7.58 (SD, 0.26) | 7.70 (SD, 0.26) |
| IOP (mmHg) | 13.8 (SD, 3.0) | 14.3 (SD, 2.8) | 13.9 (SD, 3.3) |
| VCDR | 0.36 (SD, 0.18) | 0.37 (SD, 0.24) | 0.32 (SD, 0.18) |
| Subtype of AMD (no.) | 3 GA, 0 CNV, 0 mixed†, 13 early | — | 29 GA, 21 CNV, 21 mixed†, 379 early |
| Drusen area >10% (%) | 4/16 (25) | 0/11 (0) | 88/450 (20) |
| Presence of hyperpigmentation (%) | 14/16 (88) | 1/11 (9) | 287/450 (64) |
| Presence of reticular drusen (%) | 0/16 (0) | 0/11 (0) | 27/450 (6) |
| Presence of drusen outside grid (%) | 10/16 (63) | 7/11 (64) | Not available |
AMD = age-related macular degeneration; CNV = choroidal neovascularization (wet AMD); D = diopters; GA = geographic atrophy (dry AMD); IOP = intraocular pressure; SD = standard deviation; VCDR = vertical cup-to-disc ratio.
∗
P = 0.005 independent samples t test (2-tailed) between AMD patients carrying a COL8A1 variant (n = 16) and AMD patients without variants in COL8A1 (n = 437), t = 2.81, degrees of freedom, 451.
†
Geographic atrophy and CNV.