Phenotype #0000302429
| Individual ID |
00410325 |
| Associated disease |
- |
| Phenotype details |
presentation: visual field defects; best corrected visual acuity right, left eye: 20/30; 20/25; -1.00+0.75 x 175, -0.50 DS; visual field: enlarged blind spots, both eyes; fundus features: bilateral peripapillary atrophy; fundus autofluorescence: reduced peripapillary autofluorescence, extending not availablesally & temporally, relative foveal sparing, reticular pattern of increased autofluorescence in the posterior pole, speckled autofluorescence inferiorly; optical coherence tomography: relative sparing of the fovea, interlaminar bridge not availablesal to the fovea, peripapillary loss of outer retinal layers, thin choroid; electroretinogram: moderate-to-severe reduction of scotopic and photopic responses |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal dominant |
| Diagnosis/Definite |
retinitis pigmentosa |
| Age/Examination |
81y (81 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
visual field defects |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-05-24 11:34:37 +02:00 (CEST) |
| Date last edited |
N/A |
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