Phenotype #0000302340
| Individual ID |
00410236 |
| Associated disease |
- |
| Phenotype details |
history: night blindness and visual field loss noted in second decade; best corrected visual acuity right, left eye Snellen (logMAR): 0.05 (1.3) ; amblyopia, 0.5 (0.3); refraction right/left eye: -0.75 to 2.25 x 86deg, -2.00; lens: posterior subcapsular cataract (visually disturbing); ophthalmoscopy: mild pallor optic discs; severely attenuated vessels; mild bull's eye-like lesions; epiretinal changes along vascular arcade; round lesions with retinal pigment epithelium atrophy periphery with bone-spicule pigmentations; Goldmann perimetry: constricted up to 5-10deg both eyes; optical coherence tomography: preserved retinal pigment epithelium and photoreceptors in the macular region; fundus autofluorescence: hyper-autofluorescent ring around the fovea, with hypo-autofluorescent spots in the posterior pole and midperip |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
retinitis pigmentosa |
| Age/Examination |
52y (52 years) |
| Age/Diagnosis |
- |
| Age/Onset |
31y |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-05-20 15:46:36 +02:00 (CEST) |
| Date last edited |
N/A |
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|
