Table 1.
Comparison of the ophthalmological presentation of the five patients reported with biallelic c.35C>G variant in PDE6H.
| Examination | This Report | Kohl et al. [22] | |||
|---|---|---|---|---|---|
| Patient II:1 | Patient II:2 | NL-II:1 | BE-II:1 | BE-II:2 | |
| Age last visit | 15 years | 10 years | 45 years | 22 years | 20 years |
| Best corrected visual acuity | OD 6/15; OS 6/24 |
OD 6/20; OS 6/15 |
OD 20/125; OS 20/125 |
OD 20/63; OS 20/63 |
OD 20/200; OS 20/100 |
| Refraction | OD −10.5, −2.5 × 180; OS −10.5, −2.5 × 160 |
OD −9.0, −2.0 × 30; OS −9.5, −2.5 × 160 |
OD −7.5; OS −6.5 |
OD −13.5; OS −14.25 |
OD −8.25; OS −8.25 |
| Nystagmus | Present | Present * | Present | Absent | Absent |
| Photophobia | Absent | Absent | Present | Present | Present |
| Goldmann perimetry | Normal | NA | NA | Normal | Normal |
| Fundoscopy | Changes in ODi and PA. | Changes in ODi and PA. Discreet, small disruptions of RPE in central fovea | Normal | Normal color of ODi, large temporal myopic crescents | Normal color of ODi, large temporal myopic crescents |
| Retina | Mild myopic changes | Mild myopic changes | NA | Irregular atrophic depigmentation | Irregular atrophic depigmentation |
| Macular autofluorescence | Mottled | Mottled | NA | NA | NA |
| Color vision | |||||
| Red-green deficiency | Severe | Moderate | Severe | Moderate | Moderate |
| Blue-yellow | Normal | Normal | Normal | Normal | Normal |
| ERG | |||||
| Rods | Normal | Normal | Normal | Normal | Normal |
| Cones single flash | Weak | Weak | Absent | Absent | Absent |
| Cones 30 Hz flicker | Weak | Weak | Absent | Absent | Absent |
| OCT | |||||
| IS/OS junction | Normal | Normal | NA | Disrupted | Disrupted |
| Fovea | Normal | Normal | NA | NA | NA |
Legend: ERG—Electroretinography; IS/OS—Inner segment/Outer segment; NA—Not available; PA—Peripapillary area; OCT—Optical coherence tomography; ODi—Optic disc, OD (Oculus dexter)—right eye; OS (Oculus sinister)—left eye; RPE—Retinal pigment epithelium; * Present only transiently.