Phenotype #0000300166
| Individual ID |
00408036 |
| Associated disease |
- |
| Phenotype details |
best corrected visual acuity: 6 yr: right eye: 20/ 50; left eye: 20/ 50; 29 yr: right eye: 20/ 100; left eye: 20/ 200, Goldmann perimetry: 6 yr: midperipheral scotomas; 29 yr: severe constriction (V4e < 10deg; peripheral island), fundus: 6 yr: macular granularity, peripheral bone spicules; attenuated vessels; 29 yr: atrophy throughout posterior pole with pigment clumps; peripheral bone spicules; attenuated vessels29 yr: confluent macular hypoautofluorescence extending into midperiphery, optical coherence tomography: 29 yr: diffuse loss of photoreceptors and retinal pigment epithelium; multiple focal pseudo- colobomas; choroidal atrophy, electroretinography: 7 yr: rod response nd; 30 hz cone flicker 1.0 m |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
early-onset severe retinal dystrophy |
| Age/Examination |
- |
| Age/Diagnosis |
- |
| Age/Onset |
2y |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-04-12 13:04:16 +02:00 (CEST) |
| Date last edited |
N/A |
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