Table 3. COL8A2 missense carrier phenotypes.
|
|
Patient ID (genotype) |
||
|---|---|---|---|
| Phenotype information | 4381 (R155Q) | 4964 (R155Q) | 4995 (P678L) |
| Gender |
Male |
Male |
Male |
| CCT µm (OD, OS) |
502, 526 |
484, 481 |
507, 497 |
| Age of enrollment |
49 |
86 |
73 |
| Visual acuity (OD, OS) |
20/25, 20/50 |
20/60, 20/30 |
20/25, 20/20 |
| Refractive error (OD, OS) |
-1.00 -0.75 x002
-1.50 -1.25 x017 |
-1.75 -1.26 x065
0.00 -2.25 x098 |
-0.50 -0.50 x150
0.00 -0.50 x047 |
| Gonioscopy |
Open angle |
Open angle |
Open Angle |
| IOP >21 |
Yes |
Unknown |
Yes |
| Optic nerve VCDR (OD, OS) |
0.95, 0.95 |
0.95, 0.90 |
0.9, 0.8 |
| Visual Fields* | OD: PSD 11.5- NS (S/I), ND (S/I), PS (S) OS: PSD 9.1- NS (S/I), ND (S/I), PS (S/I) | OD: Central island only OS: Central island only | OD: PSD 9.5- NS (S/I), ND (S/I), PS (S/I) OS: PSD 5.5- ND (S), PS (S/I) |
*Humphrey automated visual fields (24–2) were obtained for individuals 4831, 4995, and Goldman visual fields were available for individual 4964. Abbreviations: VCDR- vertical cup to disc ratio; PSD- pattern standard deviation; NS- Nasal step; ND- Nasal depression; PS- paracentral scotoma; S- superior; I- inferior.