Table 1.
Clinical participant data under binocular viewing.
| Participant | Age/sex | Diagnostic group | Clinical details | Clinical VA (logMAR) | Primary position waveform | |||
|---|---|---|---|---|---|---|---|---|
| Type | Primary axis | Amplitude (°) | Frequency (Hz) | |||||
| P01 | 35/F |
IN Possible retinal disorder but clinical genomic testing inconclusive |
High myopia. OCT showing macular photoreceptor disruption. Genomic testing inconclusive |
R: 1.30 L: 1.20 |
P | Horiz | – | 2.6 |
| P02 | 41/M |
IN Clinical Albinism diagnosis but clinical genomic testing inconclusive |
Grade 3 foveal hypoplasia. Normal ERG and crossed asymmetry on VEP testing. Genomic testing inconclusive |
R: 0.30 L: 0.18 |
PFS | Horiz | 1.1 | 3.0 |
| P03 | 30/M |
IN Congenital stationary night blindness |
Myopia. Electronegative ERG. Genomic testing conclusive for pathogenic CACNA1F variant |
R: 1.00 L: 0.80 |
PPFS | Horiz | – | – |
| P04 | 30/F |
IN Clinical Albinism diagnosis but clinical genomic testing inconclusive |
Grade 3 foveal hypoplasia. Normal ERG and crossed asymmetry on VEP testing. Genomic testing inconclusive |
R: 0.30 L: 0.40 |
Downbeat | Vert | – | – |
| P05 | 14/M |
IN Undiagnosed genetic disorder |
Normal OCT macula. Normal ERG and crossed asymmetry on VEP. Dysmorphic features. Hearing deficit with preauricular skin tags. Cleft lip and palate surgery. Ventricular septal defect surgery. Developmental delay |
R: 0.40 L: 0.78 |
Irregular | Vert | – | 3.0 |
| P06 | 16/M |
IN Born premature at 29 weeks gestational age. Cerebral palsy and hydrocephalus with no other cause for nystagmus found |
Normal ERG, VEP and OCT. Abnormal MRI: ventriculomegaly; white matter atrophy; small cerebellum, midbrain, pons and medulla; small optic nerves and chiasm. Genomic testing inconclusive |
R: 0.30 L: 1.00 |
Downbeat/irregular | Vert | 11.5 | 3.1 |
| P07 | 6/M |
IN Albinism |
Grade 3 foveal hypoplasia on OCT. Crossed asymmetry on VEP. Genomic testing confirming a pathogenic OCA1 genotype |
R: 0.30 L: 0.20 |
JLEF | Horiz | – | – |
| P08 | 39/F |
IN Albinism |
Normal ERG, VEP and OCT. Genomic testing inconclusive | – | JL | Horiz | – | 4.0 |
| P09 | 13/F | FMNS | Refractive error. Strabismus. Amblyopia. Normal ERG, VEP and OCT |
R: 0.10 L: 0.40 |
latent nystagmus | Horiz | 0.6 | 2.8 |
| P10 | 40/M |
IN Idiopathic |
Normal ERG, VEP and OCT. Genomic testing inconclusive |
R: 0.50 L: 0.42 |
JLEF | Horiz | 10.5 | 3.3 |
Nystagmus waveform data from eye tracker recordings. Missing values either not provided by clinician or insufficient continuous calibrated eye tracker data available to provide reliable metric. Waveform data reported for participant with FMNS given under monocular viewing.
FMNS fusion maldevelopment nystagmus syndrome, JL pure jerk left, JL(EF) jerk left (with extended foveation), MRI magnetic resonance imaging, P pure pendular, (P)PFS (pseudo) pendular with foveating saccades.