Phenotype #0000307752
| Individual ID |
00415982 |
| Associated disease |
- |
| Phenotype details |
best corrected visual acuity right, left eye: 0.7, 0.7; fundus: retinal pigment epithelium mottling: macula, subtle patchy granular flecks: not detected; autofluorescence, ring enhancement: fovea, patchy granular foci of high signal: not detected; optical coherence tomography, absence of cone outer segment tip line: fovea, deficit of photoreceptor inner and outer segment junction: not detected; electroretinogram, dark-adapted 0.01, amplitude (uV): undetectable response, peak time (ms): undetectable response; dark-adapted 30, A-wave amplitude: normal, peak time: delayed; B-wave amplitude:supernormal, peak time: not available; square shaped a-wave: (+); excessive enlargement of b-wave in the extended protocol: not available; light-adapted 3.0, A-wave amplitude: subnormal, peak time: delayed; B-wave amplitude:subnormal, peak time: delayed; light-adapted 3.0 30Hz, B-wave amplitude: subnormal, peak time: delayed |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
cone dystrophy with supernormal rod electroretinogram |
| Age/Examination |
5y (5 years) |
| Age/Diagnosis |
- |
| Age/Onset |
17y |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-08-19 14:22:53 +02:00 (CEST) |
| Date last edited |
N/A |
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