Phenotype #0000055813
| Individual ID |
00076038 |
| Associated disease |
RD |
| Phenotype details |
Retinal dystrophy; at 23 years of age: decreased vision for reading, visiual acuity: OD ambloypia, counting fingers 1m, OS 20/100, Bronze reflex with RPE atrophy in macular area, vessels and disk normal. Mild RPE degeneration, patches around arcades; bilateral, symmetric, diffuse, primary retinal dystrophy, diffuse and widespread (defined as involving the retina beyond the posterior pole) retinal pigment epithelial degeneration (that appears as fine, white, or grayish discoloration of the deeper retinal layers); arterial narrowing; visual field loss commensurate with clinical lesions; and reduced amplitudes on electroretinogram (ERG) to less than 25% of the maximal retinal response in normal individuals, that is, less than 80 V for b-wave and 30 V for a-wave (normal amplitude of b-wave 350 V and a-wave 110 V). |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
- |
| Age/Examination |
- |
| Age/Diagnosis |
- |
| Age/Onset |
5y |
| Phenotype/Onset |
unknown |
| Protein |
- |
| Owner name |
Stéphanie Cornelis |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Stéphanie Cornelis |
| Date created |
2016-02-22 12:22:09 +01:00 (CET) |
| Date last edited |
N/A |
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|
