Phenotype #0000307699
| Individual ID |
00415927 |
| Associated disease |
- |
| Phenotype details |
best corrected visual acuity right/left eye: 0.1 / 0.1; refraction right, left eye: -0,25 -1.25/ 165deg , -0.25 - 0.75/ 32deg ; visual field: central scotoma for I/4e with 25deg diameter; III/4e outer border right eye normal, left eye slightly constricted; color vision: desaturated panel D15: moderate confusions; saturated version: right eye no mistake, left eye 3 mistakes; fundus: macula slight pigmentary changes, faint yellow dots in periphery; optical coherence tomography: central thickness reduced to 132 um fundus autofluorescence: smaller central area with reduced autofluorescence; macula surrounded by very faint ring of increased autofluorescence; electroretinogram, scotopic: dim severely delayed, mixed a: (border line delayed), mixed b: increased, delayed; photopic: 30hz decreased, delayed, a (border line decreased and delayed), b decreased and delayed; multifocal electroretinogram: remaining responses for peripheral hexagon |
| Diagnosis/Initial |
cone dystrophy with supernormal rod response |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
cone dystrophy with supernormal rod response |
| Age/Examination |
20y (20 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 |
2022-08-18 12:48:49 +02:00 (CEST) |
| Date last edited |
N/A |
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