Phenotype #0000302290
| Individual ID |
00410186 |
| Associated disease |
- |
| Phenotype details |
photophobia and decreased peripheral vision, visual function moderately worsened over the next years; 40y: visual acuity: counting fingers, color discrimination: not possible; visual field: severe constriction disabling the patient`s self-orientation; history of high myopia with radial keratotomy performed in both eyes at the age of 20 years; current glass correction: -9.0 Dpt sphere both eyes, not improving his visual function; pupillary responses and intraocular pressure: normal; anterior segment: numerous radial keratotomy scars on both eyes, with the central cornea appearing clear; no inflammation in the anterior segments, mild cataract on the right eye; funduscopy: slight optic disc pallor, narrowed retinal vessels, atrophic appearing maculae both eyes; mid-periphery, widespread bone-spicule like pigmentary changes |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
retinitis pigmentosa |
| Age/Examination |
40y (40 years) |
| Age/Diagnosis |
- |
| Age/Onset |
20y |
| Phenotype/Onset |
night blindness |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-05-19 20:27:47 +02:00 (CEST) |
| Date last edited |
N/A |
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