Phenotype #0000311021
| Individual ID |
00419741 |
| Associated disease |
- |
| Phenotype details |
best corrected visual acuity right, left eye: 2/60, 2/60; refraction right, left eye: -9.00*149, -3.25; fundus: abnormal; photophobia: data not available; nystagmus: data not available; yopic appearing fundus with retinal thinning and peripapillary optic atrophy was observed in affected IV:9; ptical coherence tomography: retinal thinning throughout the retina particularly of the outer nuclear layer and otherwise normal appearing foveal architecture, disruption of inner/outer segment junctional complex with retinal pigment epithelium thinning may indicate diffuse chorioretinal atrophy; axial scan of right eye: intact posterior capsule region, transverse and longitudinal scan, right eye: multiple low intensity echoes in vitreous cavity, while retina was in situ; choroid, optic nerve head, extra-ocular muscles and retroocular fat: normal |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
achromatopsia |
| Age/Examination |
35y (35 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 |
2022-10-22 11:47:35 +02:00 (CEST) |
| Date last edited |
N/A |
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