Table 3.
Visual fields, and Electrophysiological Assessments of 15 Patients with GUCY2D-RD
| Visual Fields | Electrophysiological Assessment | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Patient No. | Phenotype Subgroup | Method | Central Scotoma | Paracentral Scotoma | Peripheral Visual Field Loss | Comments | Responses in Dark-adapted Condition | Responses in Light-adapted Condition | Lower b to a Ratio in Dark-adapted Bright Flash Responses | Comments |
| 1 (MU01-01) | LCA | NA | NA | NA | NA | Undetectable | Undetectable | No | Skin electrodes | |
| 2 (TMC01-01) | CORD | GP | No | Yes | Yes | Paracentral relative scotoma | Severely decreased | Undetectable | No | |
| 3 (NU01-01) | CORD | NA | NA | NA | NA | Undetectable | Undetectable | No | Recorded in the right eye | |
| 4 (KDU01-01) | CORD | GP/HFA | Yes | Yes | No | WNL | Mildly decreased | NA | Reduced central responses in mfERGs | |
| 5 (KDU01-02) | CORD | GP/HFA | Yes | Yes | Yes | Mildly decreased | Undetectable | Yes | ||
| 6 (GU01-01) | CORD | HFA | Yes | Yes | Yes | Central and paracentral relative scotoma | Mildly decreased | Severely decreased | No | Reduced central responses in mfERGs |
| 7 (TMC02-01) | CORD | GP | Yes | Yes | Yes | Severely decreased | Undetectable | No | ||
| 8 (JU01-01) | CORD | GP | Yes | Yes | No | Mildly decreased | Severely decreased | No | ||
| 9 (JU01-02) | CORD | GP/HFA | Yes | Yes | No | Mildly decreased | Moderately decreased | No | ||
| 10 (JU01-03) | CORD | NA | NA | NA | NA | NA | NA | NA | ||
| 11 (JU02-01) | CORD | NA | NA | NA | NA | Mildly decreased | Undetectable | Yes | Reduced central responses in mfERGs | |
| 12 (KDU02-01) | CORD | GP | Yes | Yes | Yes | Moderately decreased | Severely decreased | No | ||
| 13 (TMC03-01) | CORD | GP | Yes | Yes | No | Moderately decreased | Undetectable | No | ||
| 14 (NU02-01) | CORD | NA | NA | NA | NA | Mildly decreased | Severely decreased | Yes | ||
| 15 (MU02-01) | MD | NA | NA | NA | NA | WNL | WNL | No | Reduced central responses in FMERG | |
FMERG, focal macular electroretinogram; GP, Goldmann kinetic perimetry; HFA, Humphry field analyzer; mfERG, multifocal electroretinogram; WNL, within normal limit.
Lower b to a ratio in dark-adapted bright flash responses was defined as less than 0.9.
Severity of electrophysiological responses were defined as follows; undetectable, more than 90% amplitude reduction compared to the normal reference; severely decreased response, between 90% and 75% amplitude reduction; moderately decreased response, between 75% and 50% amplitude reduction; mildly decreased responses, less than 50% amplitude reduction.