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. 2023 Dec 20;13:22812. doi: 10.1038/s41598-023-50367-y

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.