Global Variome shared LOVD

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Phenotype #0000305300 Individual ID 00413318 Associated disease - Phenotype details best corrected visual acuity right, left eye: 6/9, 6/12; fundus: bilateral macular retinal pigment epithelium changes with areas of atrophy & pigmentation; left right eye; fundus autofluorescence: bilateral localized areas of increased macular autofluorescence; electroretinogram: markedly reduced cone responses; pattern electroretinogram: absent; color vision: absent Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite cone-rod dystrophy Age/Examination 53y (53 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 2022-07-14 20:21:02 +02:00 (CEST) Date last edited N/A

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