Phenotype #0000303548
| Individual ID |
00411511 |
| Associated disease |
- |
| Phenotype details |
16y: best corrected visual acuity right, left eye: 0.7, 0.8; posterior subcapsular cataract both eyes:extension not reaching equator; vitreous: pigmentary particules; disc right/left eye: waxy pallor, waxy pallor; vessels: severe attenuation; pigmentation morphology: typical bone spicule; pigmentation grading: sparse and thick; macula appearance: altered; Visual field (area, %) I4 right/left eye: 3.5/1.7, V4 right/left eye: 71.2/98.8; rod electroretinogram: b amplitude both eyes: not available; rod electroretinogram: b amplitude maximal response both eyes: not available, ""a"" peak both eyes: : not available/not available, ""b"" peak both eyes: not available/not available, cone 30-Hz amplitude both eyes: not available/not available; 17y: best corrected visual acuity right, left eye: 0.7, 0.8; posterior subcapsular cataract both eyes:extension not reaching equator; vitreous: pigmentary particules; disc right/left eye: waxy pallor, waxy pallor; vessels: severe attenuation; pigmentation morphology: typical bone spicule; pigmentation grading: sparse and thick; macula appearance: altered; Visual field (area, %) I4 right/left eye: 1.2/< 1.0, V4 right/left eye: 56.5/49.5; rod electroretinogram: b amplitude both eyes: not available; rod electroretinogram: b amplitude maximal response right/left eye: 10/11.5, ""a"" peak right/left eye: 23/20, ""b"" peak right/left eye: 57.5/58.5, cone 30-Hz amplitude right/left eye: not recordable/1.08 |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal dominant |
| Diagnosis/Definite |
retinitis pigmentosa |
| Age/Examination |
16y (16 years) |
| Age/Diagnosis |
- |
| Age/Onset |
4y |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-06-14 14:34:23 +02:00 (CEST) |
| Date last edited |
N/A |
|
