Phenotype #0000307764
| Individual ID |
00415998 |
| Associated disease |
- |
| Phenotype details |
poor vision from birth; 4m: nystagmus; 5y: difficulties with night vision no family history, no systemic problems; best corrected visual acuity right, left eye: 20/125, 20/320 (Sheridan Gardner matching letters); no strabismus; fine, high-frequency, low-amplitude horizontal nystagmus, with no altered head posture; refraction right, left eye: -3.75 +1.00 x 90, -6.00 +2.50 x 90 in the left eye; fundus: mild myopic changes, with subtle macular pigmentary changes; optical coherence tomography: loss of resolution and volume of the photoreceptor complex at the fovea; fundus autofluorescence testing: not tolerated; electroretinography, recorded with skin electrodes: a subnormal and markedly delayed rod electroretinogram and a broad and delayed a-wave to a bright flash, with a ""squared” o""rhomboid” appearance, followed by a steeply rising high amplitude b-wave; cone system-derived photopic single flash and flicker electroretinogram barely detectab |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
cone dystrophy with supernormal rod electroretinogram |
| Age/Examination |
6y (6 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 |
2022-08-19 19:18:29 +02:00 (CEST) |
| Date last edited |
N/A |
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