Phenotype #0000292444
| Individual ID |
00399327 |
| Associated disease |
- |
| Phenotype details |
12y: poor distance sight. 24y: severe reading impairment and photophobia; visual acuity right/left eye 10/200 / counting fingers; refraction 1.50(1.25; 75°) / 2.25(1.25; 120°); fundus: many tiny white dots around the fovea and beyond the vascular arcades; retinal vessels slightly narrowed, no pigment deposits, optic discs not pale; Fluorescein angiography: a cystoid macular edema; Goldmann perimetry: some degree of peripheral visual field loss that predominated in the right eye, and an absolute central scotoma that was larger in the left eye; full-field electroretinography: with the patient wearing contact lenses - no rod responses, but highly attenuated mixed rod–cone responses and pure cone responses at 30-Hz flickers were still recordable; dark adaptometry: no rod adaptation after 30 min |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
Retinitis Punctata Albescens |
| Age/Examination |
24y (24 years) |
| Age/Diagnosis |
- |
| Age/Onset |
6y |
| Phenotype/Onset |
night blindness |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-01-19 15:00:59 +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.
|
