Table 1. Phenotypic characterization of the family members II-8, III-5, IV-7, IV-8, III-6 and III-9.
| proband | II-8 (affected) | III-5 (affected) | IV-7 (affected) | IV-8 (affected) | III-6 | III-9 |
|---|---|---|---|---|---|---|
| refraction at last examination | OD -21.00-0.25/74°; OS -21.25sph | OD -23.00sph; OS -22.75-0.5/43° | OD -8.00-3.00/5°; OS -7.50-3.00/165° | OD -2.75-2.25/160°; OS -3.0-1.5/174° | OD/OS emmetropia | OD +1.00-0.25/106°; OS +1.25-1.00/48° |
| age at last examination (y) | 72 | 5151 | 8 | 3 | 45 | 43 |
| best corrected visual acuity OD/OS (decimal scale) | 0.01/0.014 | 0.16/0.2 | 0.2/0.2 | 0.125/0.125 | 1.0/1.0 | 1.0/0.8 |
| nystagmus | congenital | congenital | congenital | no | no | no |
| orthoptic examination | orthotropia | orthotropia | esotropia | intermittent exotropia | orthophoria | esophoria |
| binocular vision | none | Bagolini Striated Glasses Test | none | Lang-Test localized, Titmus Fly | Lang-Test | Lang-Test |
| biomicroscopy | Cataracta provecta | Cataracta incipiens | normal | normal | normal | normal |
| fundoscopy | myopic changes (including pigmentary abnormalities at the posterior pole) | myopic changes (including pigmentary abnormalities at the posterior pole) | discreet optic nerve atrophia, irregular pigmentation in the macular area | discreet optic nerve atrophia, irregular pigmentation in the macular area | normal | normal |
| SD-OCT | with artifacts (staphyloma, nystagmus) | with artifacts (staphyloma, nystagmus) | thin choroid, otherwise normal; fovea normal | OS: fovea normal, OD: not reliable (cooperation) | normal | normal |
| visual fields | Goldmann III 4e normal | Goldmann III 4e normal | Goldmann III 4e normal; 30.2 reduced sensitivity | not examined | 30.2 normal | 30.2 normal |
| color vision | severe red-green defects | moderate red-green defects | mild red-green defects | not examined | normal | normal |
| dark adaptation | not examined | not examined | elevated rod and cone thresholds (2 log units) | not examined | not examined | not examined |
| scotopic ERG | severely reduced, almost extinguished a- and b- wave | severely reduced, almost extinguished a- and b-wave | slightly reduced a- and b-wave, no “negative” ERG | screening ERG below noise level | low, but within normal ranges | low, but within normal ranges |
| photopic ERG | not recordable | not recordable | below noise level | screening ERG below noise level | normal | normal |
| oscillatory potentials | not recordable | not recordable | reduced | not examined | normal | normal |
| 30 Hz flicker ERG | not recordable | not recordable | not recordable | not examined | normal | with artefacts |
OD = right eye, OS = left eye; SD-OCT = Spectral domain optic coherence tomography; ERG = electroretinogram