Phenotype #0000259548
| Individual ID |
00364210 |
| Associated disease |
- |
| Phenotype details |
A 20-year-old man presented with a history of blurring of central vision, mild subjective dyschromatopsia and mild nyctalopia beginning at age 16 years. His referring physician had documented bilateral central scotomas with a Humphrey 10–2 visual field. On examination, he was 20/40 for both eyes in his appropriate correction and read 19/20 AOHRR plates correctly with both eyes. Goldmann perimetry demonstrated 5° central scotomas to the I3e and I4e isopters. Final dark adaptation thresholds were normal for both eyes. Fundus examination demonstrated bilateral “bulls-eye” lesions in the parafoveal regions and small parafoveal flecks. No peripheral flecks were noted. The ERG demonstrated completely normal rod responses. Responses of dark-adapted cones seemed subnormal when examined with the red flash, especially at the lower test intensity. Both scotopic and photopic 30 Hz flicker responses were decreased in amplitude. The maximum combined scotopic responses were borderline in amplitude but had normal implicit times. The photopic responses were mildly reduced with rolonged implicit times. |
| Diagnosis/Initial |
Stargardt disease |
| Inheritance |
Unknown |
| Diagnosis/Definite |
STGD1 |
| Age/Examination |
- |
| Age/Diagnosis |
- |
| Age/Onset |
16y |
| Phenotype/Onset |
blurring of central vision, mild subjective dyschromatopsia and mild nyctalopia |
| Protein |
- |
| Owner name |
Stéphanie Cornelis |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Stéphanie Cornelis |
| Date created |
2021-05-03 14:25:36 +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.
|
