Phenotype #0000308269
| Individual ID |
00416549 |
| Associated disease |
- |
| Phenotype details |
nyctalopia; no photophobia; best corrected visual acuity right, left eye: 20/40, 20/40; refraction, mean spherical equivalent right, left eye: +0.75, +0.75; kinetic visual fields (horizontal for listed isopters): normal (V4e), concentric constriction (kinetic I4e) and paracentral scotomas (static I4e); full field electroretinography: scotopic nonrecordable, photopic severely reduced and delayed responses; multifocal electroretinography: central 5 deg responses normal, 10 deg to 25 deg delayed and reduced; maculopathy: mild atrophy; fundus periphery: midperipheral to peripheral bone spiculae and dotted hypopigmentation, retinal vessel attenuation; fundus autofluorescence: paracentral ring of hyperautofluorescence , midperipheral speckled hypoautofluorescence; spectral domain optical coherence tomography: central macular edema: absent, central retinal thickness, um, right, left eye: 210, 210; total macular volume (mm3): 2.58, 2.52 |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal dominant |
| Diagnosis/Definite |
retinitis pigmentosa |
| Age/Examination |
10y (10 years) |
| Age/Diagnosis |
- |
| Age/Onset |
09y |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-09-05 12:18:59 +02:00 (CEST) |
| Date last edited |
2022-09-05 12:36:54 +02:00 (CEST) |
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