Phenotype #0000315233
| Individual ID |
00424026 |
| Associated disease |
- |
| Phenotype details |
duration of follow-up (years): 57-59; average examined age of comprehensive ophthalmic examinations: 57.1666666666667; best corrected visual acuity right, left eye (first examination; last examination; overall): 0, 0;0, 0;0, 0; refraction spherical equivalent right, left eye: +3.50D cyl. -0.50D, +3.5D cyl. -0.25D inconspicuous, partial white dots at peripheral retina, and macular degeneration in both eyes; fundus autofluorescence: reduced autofluorescence, and irregular autofluorescence around fovea in both eyes; optical coherence tomography: diffuse disruption of ellipsoid zone and interdigitation zone with foveal sparing in both eyes; visual field (Goldmann perimetry): not determined; full field electroretinography: standard dark adaptation: 30-min dark adapted in both eyes, dark adapted 0.01: extinguished b-wave, dark adapted 3.0: decreased a- and b-waves with electronegative waveform, light adapted 3.0: decreased a- and b-waves, 30-Hz flicker: decreased b-wave, extended dark adaptation:2-hour dark adapted in both eyes, dark adapted 0.01: normal b-wave, dark adapted 3.0: normal a- and b-waves, light adapted 3.0: decreased a- and b-waves, 30-Hz flicker: decreased b-wave |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
retinitis punctata albescens |
| Age/Examination |
57y2m (57 years, 2 months) |
| 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 |
2022-11-16 11:01:12 +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.
|
