Phenotype #0000308297
| Individual ID |
00416577 |
| Associated disease |
- |
| Phenotype details |
whole cohort description: age at onset: 10-50y, differed between the generations, three affected patients found to be asymptomatic with a completely normal retinal appearance; visual acuities (range 20/20 to finger counting); 16 of 17 had better than 20/40 acuity and 11 of 17 had 20/20 acuity at the most recent visit; visual-field sizes: 10-80 deg; electroretinography abnormalities: highly variable, with early rod dysfunction followed by cone defects; earliest sign of disease (found in four children) - an unusual perivascular cuff of retinal pigment epithelium atrophy, which was found surrounding the superior and inferior arcades; this progressed to a diffuse pigmentary retinopathy with choroidal sclerosis |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal dominant |
| Diagnosis/Definite |
retinitis pigmentosa |
| Age/Examination |
- |
| 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 |
2022-09-05 14:43:53 +02:00 (CEST) |
| Date last edited |
N/A |
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