Phenotype #0000307724
| Individual ID |
00415953 |
| Associated disease |
- |
| Phenotype details |
4y: salient history, symptoms, and signs: diminution of vision; horizontal nystagmus; right esotropia 20 prism diopters; best corrected visual acuity right:left eye: 20/200:20/200; refraction right, left eye: -5.50 DSph: -6.75 DSph; color vision both eyes: not tested; contrast sensitivity right:left eye: not tested;15y: salient history, symptoms, and signs:improvement in nystagmus; nyctalopia for 12 y; photophobia for 9 y; best corrected visual acuity right:left eye: 20/200:20/200; refraction right, left eye: -9.0 DSph/+1.75 DCyl x 90deg: -10.25 DSph/+1.0 DCyl x 90deg; color vision both eyes: severe red-green and blue-yellow deficits; contrast sensitivity right:left eye: 1.05:1.05; 15y: macular fundus appearance: minimal retinal pigment epithelium changes; autofluorescence: broad parafoveal ring of hyperfluorescence with central retinal pigment epithelium atrophy; optical coherence tomography right:left eye: complete disruption of photoreceptor inner/outer segment junction and outer segment at the fovea; centrabfield thickness, 162:166 um; cube average thickness, 251:247 um |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
cone dystrophy with supernormal rod electroretinogram |
| Age/Examination |
15y (15 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-08-19 11:36:23 +02:00 (CEST) |
| Date last edited |
N/A |
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