Phenotype #0000307111
| Individual ID |
00415314 |
| Associated disease |
- |
| Phenotype details |
best corrected visual acuity right, left eye: counting fingers, counting fingers; refraction (spherical equivalent) right, left eye: -4.0D, -3.25D; fundus: optic disc pallor, attenuated arterioles, retinal pigment epithelium atrophy in posterior pole, normal appearance of (mid)peripheral retinal pigment epithelium ; autofluorescence: decreased autofluorescence in central macula, perimacular mottled pattern of hypofluorescence; optical coherence tomography:loss of retinal layers at the fovea, partially present, but irregular outer retinal layers perifoveally and in posterior pole, intact inner retina, thickened choroid; color vision testing:both eyes deutan anomaly with panel d-15 (42y); visual field (Goldmann):both eyes large central scotoma with relative intact periphery; electroretinogram:scotopic responses significantly reduced isolated rod and mixed responses both eyes; photopic responses significantly reduced 30 Hz and single flash responses right eye, responses within normal limits left eye (latencies prolonged both eyes) |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
macular dystrophy |
| Age/Examination |
62y (62 years) |
| Age/Diagnosis |
27y |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-08-11 14:38:16 +02:00 (CEST) |
| Date last edited |
N/A |
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