Phenotype #0000302049
| Individual ID |
00409935 |
| Associated disease |
- |
| Phenotype details |
nyctalopia in infancy; visual field loss: 3rd decade of life; visual acuity loss: before 4th decade of life; best corrected visual acuity: 20/100; macula: difficult to assess due to synchysis scintillans. small pigmentations; age at visual field testing: 37y - central horizontal diameter V-4e (deg): 145/142; central horizontal diameter I-4e (deg): 48-10/53; minimal isopter size observed on Goldmann kinetic perimetry: I-2e; seeing retinal area V4e (mm2): 782.8/765.7; change (mm2/year):-15.4; pattern: midperipheral absolute scotomas, encroaching towards fovea. relative concentric constriction.52y - central horizontal diameter V-4e (deg): 72/66; central horizontal diameter I-4e (deg): 39-10/55; minimal isopter size observed on Goldmann kinetic perimetry: I-2e; seeing retinal area V4e (mm2): 543.9/543.5; pattern: relative paracentral scotomas. relative concentric constriction, mainly superior hemifield. |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
retinal dystrophy |
| Age/Examination |
64y (64 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 |
2022-05-14 11:49:20 +02:00 (CEST) |
| Date last edited |
N/A |
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|
