Phenotype #0000305566
| Individual ID |
00413592 |
| Associated disease |
- |
| Phenotype details |
not visually responsive until 3m; then visual behaviour mildly improved (fixed and followed a light source), photophobia, horizonto-rotatory nystagmus of low amplitude and high frequency, increasing in lateral and superior gaze, consistent with an infantile nystagmus syndrome; small-angle right esotropia; anterior segment examination: iris transillumination at the iris root without any other anomaly; fundus: normal optic disc, no foveal reflex, a starburst macular aspect with fine radial folds at the vitreomacular interface, dark red dot lesion in both foveae; cull cycloplegic refraction right, left eye: +7.50(-1.0)180deg, +8.0(-2.0)10deg; full-field electroretinogram responses: markedly abnormal (first electroretinogram – 6m): dark-adaptation 0.01: a delayed and severely reduced b-wave, scotopic conditions, the dark-adaptation 0.01 electroretinogram b-wave severely reduced and delayed, dark-adaptation 3.0: simplified appearance with a reduced a-wave and a nearly flat b-wave; light-adaptation 3.0 electroretogram and light-adaptation 30 Hz severely reduced - suggestive of Leber congenital amaurosis; repeat electroretinogram 1y: dark-adaptation 3.0 electroretinogram a-wave reduced and simplified, b-wave delayed and severely reduced (b/a ratio 1.2); photopic adaptation, the cone-specific light-adaptation 3.0 electroretinogram a-wave present and reduced, the b-wave more severely reduced compared to dark-adaptation 3.0 electroretinogram b/a ratio 0.8 (normal 1.4) - electronegative waveform found in response to both dark-adaptation 3.0 and light-adaptation 3.0 stimulations; light-adaptation 30-Hz flicker of markedly reduced amplitude. 7y: attending a specialized school for visually impaired children; behavioural problems (autism-spectrum disorder); complained of photophobia; corrected distance visual acuity right / left eye: 0.008 (decimals, 4/480, logMAR 2.1) / 0.005 (decimals, 4/500, logMAR 2.3) after high hyperopia correction; near visual acuity better; Farnsworth 15-Hue test: multiple ranking errors without any axis. optical coherence tomography: foveal gap in the ellipsoid zone, parafoveal scans a saw-tooth irregularity at the level of inner limiting membrane fundus autofluorescence: normal; infrared reflectance imaging: enhanced an aspect of a dark foveal dot and radial macular folds already seen at colour fundus photographs |
| Diagnosis/Initial |
Leber congenital amaurosis |
| Inheritance |
Familial, autosomal dominant |
| Diagnosis/Definite |
incomplete congenital stationary night blindness |
| Age/Examination |
7y (7 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-07-20 11:31:23 +02:00 (CEST) |
| Date last edited |
N/A |
|
