Phenotype #0000307725
| Individual ID |
00415954 |
| Associated disease |
- |
| Phenotype details |
2y: salient history, symptoms, and signs: asymptomatic; best corrected visual acuity right:left eye: central steady maintenance; refraction right, left eye: +0.25 DSph: +1.00 DSph; color vision both eyes: not tested; contrast sensitivity right:left eye: not tested;13y: salient history, symptoms, and signs: nyctalopia for 9 y; photophobia for 4 y; micronystagmus; best corrected visual acuity right:left eye: 20/125:20/200; refraction right, left eye: -7.0 DSph: -6.25 DSph; color vision both eyes: protan and tritan deficits (large d15); contrast sensitivity right:left eye: 1.20:1.20; 13y: macular fundus appearance: dull foveal reflex; autofluorescence: faint perifoveal hyperfluorescent ring; optical coherence tomography right:left eye: presence of all layers at fovea, mild disruption of photoreceptor inner/outer segment junction at fovea; central subfield thickness, 211:204 um; cube average thickness, 260:274 um |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
cone dystrophy with supernormal rod electroretinogram |
| Age/Examination |
13y (13 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 |
|
