Global Variome shared LOVD

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Phenotype #0000305051 Individual ID 00413070 Associated disease - Phenotype details best corrected visual acuity right, left eye: 20/400, 20/63; night blindness: no, photophobia: yes, color vision defect: yes; full-field electroretinogram: rod responses normal, cone responses reduced; visual field: central scotomafundus: see image; additional changes: subcapsular cataract Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite cone dystrophy Age/Examination 47y (47 years) Age/Diagnosis - Age/Onset 38y Phenotype/Onset decrease of visual acuity Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-07-11 11:39:22 +02:00 (CEST) Date last edited N/A

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