Phenotype #0000306857
| Individual ID |
00415056 |
| Associated disease |
- |
| Phenotype details |
best corrected visual acuity right, left eye: 20/200, 20/100; anterior segment findings: horizontal corneal diameter: 11.2mm, 11.5mm, shallow anterior chamber and nairnw camerular angles both eyes; posterior segment findings: optic disc drusen, pigment clumping, and bone-spicule pigmentation both eyes; electroretinogram: extinguished rod responses and barely registrable cone responses both eyes; optical coherence tomography: diffuse macular thickening, outer retinal layers schisis with discrete bridging elements at the fovea (foveoschisis) both eyes |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen syndrome |
| Age/Examination |
49y (49 years) |
| Age/Diagnosis |
- |
| Age/Onset |
24y |
| Phenotype/Onset |
progressive impairment of night vision and bilateral progressive decrease in visual acuity |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-08-06 21:06:02 +02:00 (CEST) |
| Date last edited |
N/A |
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