Table 1.
Audiological, ophthalmological, and vestibular manifestations of two probands
| Subject | Sex/age (yr) | Auditory phenotype |
Visual phenotype |
Vestibular phenotype |
||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Onset | Hearing threshold (dB) | Speech discrimination (%) | Configuration | BCVA | Fundus finding | Electroretinography | Visual field | Subjective dizziness | Vestibular function | |||
| SB237-461 | M/46 | Childhood | R, 75; L, 78 | R, 28; L, 24 | Down-sloping | 20/125 | 20/100 | Diffuse retinal degeneration | Extinction | Central island | No | Normal |
| SB354-692 | F/34 | Childhood | R,108; L, 78 | R, 0; L, 20 | Down-sloping | 20/32 | 20/30 | Non–center-involving retinal degeneration | NA | NA | No | NA |
BCVA, best-corrected visual acuity (as Snellen equivalents); R, right; L, left; NA, not available.