Phenotype #0000302337
| Individual ID |
00410233 |
| Associated disease |
- |
| Phenotype details |
history: night blindness since age 15y; fast decrease of va since age 20y; visual field loss since age 30 y; best corrected visual acuity right, left eye Snellen (logMAR): LP (2.7), LP (2.7); refraction right/left eye: -6.00 to 1.50 x 53deg, 5.5 to 2.00 x 125deg; lens: posterior subcapsular cataract (visually disturbing); ophthalmoscopy: pale-white optic discs and severely attenuated vessels; preserved narrow ring (right eye) or doughnut shaped area (left eye) of retina surrounding the atrophic macula; very severe chorioretinal atrophy with intraretinal bone-spicule pigmentations in periphery; Goldmann perimetry: constricted up to 5deg (right eye) and 10deg (left eye) at age 31y; optical coherence tomography: severely atrophic retina with a relatively preserved retina with a retinal pigment epithelium/choroid band in the area corresponding with the ring that surrounds the macula; fundus autofluorescence: diffuse scleral reflectance with a hypo-autofluorescent ring around the macula |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
retinitis pigmentosa |
| Age/Examination |
65y (65 years) |
| Age/Diagnosis |
- |
| Age/Onset |
11y |
| 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 |
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