TABLE 1.
Clinical data and findings of the subjects described in this study.
| ID | Sex | Age of visual symptom onset (y) | Age of 1st visit (y) | Ocular symptoms | Cataract | Macular findings | ffERG | SNHL onset (y) | Vestibular symptoms | MRI |
|---|---|---|---|---|---|---|---|---|---|---|
| Subject 1 | M | 65 | 65 | Night vision disturbances and reduced peripheral vision | No | Perifoveal loss of the outer retinal layers | Rod‐cone dysfunction | 47 | None | Normal at the age of 47 |
| Subject 2 | F | 25 | n.a. | Night vision difficulties and visual field constriction | n.a. | Preserved outer retinal layers with cystoid macular edema | Rod‐cone dysfunction | n.a. | n.a. | n.a. |
| Subject 3 | F | 42 | 57 | Night vision and visual field difficulties | Trace nuclear sclerosis at 67 y | Perifoveal progressive loss of outer retinal layers | Rod‐cone dysfunction | 45 | None | Mild cerebral and cerebellar atrophy. White matter lesions suggestive of small vessel vasculopathy |
| Subject 4 | M | 50s | 53 | Night vision disturbances | Subtle posterior subcapsular cataracts | Preserved outer retina with cystoid maculopathy | Rod‐cone dysfunction | None when last seen at 54 | None | NP |
| Subject 5 | F | 18 | 59 | Night vision disturbances and visual field constriction | Subtle posterior subcapsular cataracts | Preserved outer retina with cystoid maculopathy | Rod‐cone dysfunction | 20 | None | NP |
| Subject 6 | F | 58 | 63 | Night vision disturbances | Subtle posterior subcapsular cataracts | Preserved outer retina with cystoid maculopathy | Rod‐cone dysfunction | 58 | None | NP |
| Subject 7 | M | 40 | 74 | Night vision disturbances, then photophobia | Subtle posterior subcapsular and nuclear cataracts | Macular atrophy with a narrowed area of foveal sparing | Rod‐cone dysfunction | 50 | None | NP |
| Subject 8 | M | 55 | n.a. | Night blindness and photophobia | Subtle posterior subcapsular | Cystoid maculopathy in the left eye with well preserved outer retina | Rod‐cone dysfunction | n.a. | None | NP |
| Subject 9 | M | 45 | 68 | Decreased visual acuity, night vision disturbances and visual field constriction | Cataract surgery OU | Macular atrophy | Rod‐cone dysfunction | 42 | None | NP |
| Subject 10 | F | 50 | 72 | Night vision disturbances and visual field constriction | Cataract surgery OU | Preserved outer retina | Rod‐cone dysfunction | 30 | None | NP |
| Subject 11 | M | 22 | 54 | Decreased visual acuity, night vision disturbances and visual field constriction | Cataract surgery OD; cortical and nuclear cataract OS | Macular atrophy | Rod‐cone dysfunction | 40 | None | NP |
| Subject 12 | F | 52 | 55 | Night vision disturbances and visual field constriction | No | Perifoveal progressive loss of outer retinal layers | Rod‐cone dysfunction | 48 | None | NP |
| Subject 13 | F | 34 | 36 | Decreased visual acuity, night vision disturbances and photophobia | No | Macular atrophy | Rod‐cone dysfunction | 48 | None | NP |
Abbreviations: F, female; ffERG, full‐field ERG; M, male; MRI, Magnetic Resonance Imaging; n.a., information not available; NP, not performed; OD, oculus dexter (right eye); OS, oculus sinister (left eye); OU, oculus uterque (both eyes); SNHL, sensorineural hearing loss; y, year.