Phenotype #0000302296
| Individual ID |
00410192 |
| Associated disease |
- |
| Phenotype details |
23y (first visit): best corrected Snellen visual acuity right, left eye: 20/20, 20/20; electroretinograms: full field cone ERG amplitude in microvolts to 30HZ white light (lower norm = 50 microvolts): 0.24 / 0.6; visual field right, left eye: Goldmann total field area to V-4e white test light: 2060 / 1795; dark adaptation: final threshold in log units above normal after 45 minutes of adaptation: 3; lens right / left eye: central posterior subcapsular cataract / central posterior subcapsular cataract; macula right / left eye: normal / normal; periphery: bone spicule or clumped pigment in one or more quadrants; 43y (last visit): best corrected Snellen visual acuity right, left eye: 20/20, 20/30; electroretinograms: full field cone ERG amplitude in microvolts to 30HZ white light (lower norm = 50 microvolts): 0.22 / 0.32; visual field right, left eye: Goldmann total field area to V-4e white test light: 69 / 65; dark adaptation: final threshold in log units above normal after 45 minutes of adaptation: 4; lens right / left eye: pseudophakia / pseudophakia; macula right / left eye: granular / granular; periphery: bone spicule or clumped pigment in one or more quadrants |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
retinitis pigmentosa |
| Age/Examination |
43y (43 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 |
2022-05-20 12:01:22 +02:00 (CEST) |
| Date last edited |
N/A |
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