Phenotype #0000305565
| Individual ID |
00413591 |
| Associated disease |
- |
| Phenotype details |
best corrected visual acuity first visit (age), follow up visit: 20/80 (7), 20/70; refraction at follow-up: both eyes -6 = -2.5x0204; full-field electroretinography at presentation - right eye; rod amplitude (A): 0rod implicit time (it): 0; rod-cone a wave (A): 159; rod-cone a wave (it): 19; rod-cone b wave (A): 72; rod-cone b wave (it): 31; cone a wave (A): 54; cone a wave (it): 19; cone b wave (A): 28; cone b wave (it): 26; 30 Hz flicker (A): 42; 30 Hz flicker (it): 26; red b1 (A): 0; red b1 (it): 0; normal values (respectively, range) 215-245, 103-380, 69-115, 164-378, 11-17, 284-705, 42-60, 54-117, 11-15, 96-239, 33-37, 96-259, 25-32, 51-197 , 42-53 |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal dominant |
| Diagnosis/Definite |
cone-rod dystrophy |
| Age/Examination |
9y (9 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
poor night vision, defective color vision, light sensitivity |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-07-19 20:59:03 +02:00 (CEST) |
| Date last edited |
N/A |
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