Phenotype #0000307000
| Individual ID |
00415202 |
| Associated disease |
- |
| Phenotype details |
best corrected visual acuity right/left eye: 20/35/20/40; refraction right/left eye: +24 OD/+24 OS; axial length, mm: 15.1/15.09; horizontal corneal diameter, mm: 11.7/12; anterior chamber depth, mm: 3.23/3.33; average macular thickness: 345.9/346.1; average retinal nerve fiber layer thickness: 125/145; fundus appearance and fluorescein angiography both eyes: retinitis pigmentosa, papillomacular retinal fold, absence of the capillary-free zone, crowded optic disc; optical coherence tomography: diffuse macular thickening, outer retinal layer schisis, papillomacular retinal fold; electroretinography: moderate rod responses and discrete reduction of cone response both eyes |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
posterior microphthalmos-renititis pigmentosa-foveoschisis syndrome without optic disk drusen |
| Age/Examination |
10y (10 years) |
| 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 |
2022-08-10 10:11:10 +02:00 (CEST) |
| Date last edited |
N/A |
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