Phenotype #0000307727
| Individual ID |
00415956 |
| Associated disease |
- |
| Phenotype details |
9y: salient history, symptoms, and signs: no nystagmus; mild nyctalopia for 5 y; photophobia for 5 y; best corrected visual acuity right:left eye: 20/125:20/200; refraction right, left eye: -7.0 DSph/+1.0 DCyl x 130deg: -6.75 DSph; color vision both eyes: severe red-green deficit, moderate blue-yellow deficit; contrast sensitivity right:left eye: 1.05:1.05;y: salient history, symptoms, and signs:; best corrected visual acuity right:left eye: ; refraction right, left eye: ; color vision both eyes: ; contrast sensitivity right:left eye: 1.05:1.05; macular fundus appearance: minimal retinal pigment epithelium changes; autofluorescence: faint hyperfluorescence at the fovea; optical coherence tomography right:left eye: optical gap at the fovea, disruption of photoreceptor inner/outer segment junction and photoreceptor outer segment at fovea, presence of inner retinal layers at foveola; central subfield thickness, 198:198 um; cube average thickness, 240:248 |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
cone dystrophy with supernormal rod electroretinogram |
| Age/Examination |
9y (9 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 |
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|
