Phenotype #0000300069
| Individual ID |
00407939 |
| Associated disease |
- |
| Phenotype details |
at the initial visit best corrected visual acuity: 0.6 with +1.25 diopter sphere (DS) and -0.75 D cylinder (DC) ax 160deg in the right eye and 0.6 with +0.5 DS and -0.25 DC ax 20deg in the left eye; visual field: severely constricted; ophthalmoscopy: diffuse retinal degeneration with macular degeneration; fundus: reticulated before the age 10 years; 9y: single-bright flash full-field electroretinograms: non-recordable, flicker ERGs: barely recordable; vision markedly decreased in middle teens resulting in hand motion vision at age 17 years; macular degeneration -atrophic and a posterior staphyloma present in both eyes; 23y: posterior subcapsular cataract 23-year old. She is now 31-year old, and her vision is light perception in both eyes (Fig. 2).; 30-31y: optical coherence tomography and ultrasonography: deep excavation and a thinning of the retina at the posterior pole of both eyes; axial length right/left eye: 22.72 +/- 0.05 / 21.20 +/- 0.09 |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
retinitis pigmentosa |
| Age/Examination |
31y (31 years) |
| Age/Diagnosis |
4y |
| Age/Onset |
3y |
| Phenotype/Onset |
difficulty in the dark |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-04-11 09:44:38 +02:00 (CEST) |
| Date last edited |
N/A |
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