Phenotype #0000056249
| Individual ID |
00076474 |
| Associated disease |
- |
| Phenotype details |
retinitis pigmentosa; Reduced visual acuity (10/100 right eye, 20/100 left eye) and diminished visual fields, hyperopia, astigmatism, and nystagmus. Anterior segments were normal. Funduscopy revealed roundish pigments distributed across the entire retina including peripheral retina, posterior pole, and macular region. The retinal vessels showed filliform constriction, and the optic disc was normal. Visual fields were concentrically constricted with small remaining central and nasal islands (less than 10 degrees). ERG responses (photopic and scotopic) were not discernible from noise anymore. Pigment spots homogeneously scattered through the retina with preservation of the PPRPE |
| Diagnosis/Initial |
retinitis pigmentosa |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
- |
| Age/Examination |
- |
| Age/Diagnosis |
- |
| Age/Onset |
2y |
| Phenotype/Onset |
At 2: deficit of the peripheral visual field, at 14: night vision deficits and reduction of central visual actuity. |
| Protein |
- |
| Owner name |
Stéphanie Cornelis |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Stéphanie Cornelis |
| Date created |
2016-02-22 12:22:09 +01:00 (CET) |
| Date last edited |
2020-08-25 10:48:31 +02:00 (CEST) |
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