Table 3 of Desronvil, Mol Vis 2010; 16:2185-2191.


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)