Global Variome shared LOVD

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Phenotype #0000307028 Individual ID 00415230 Associated disease - Phenotype details best corrected visual acuity right, left eye: 20/100 (-6.5 + 3.5 90deg), 20/100 (-9.5 + 5.0 90deg); fundus: foveal atrophy; optical coherence tomography: foveal hypoplasia with no umbo formation, cone loss in the central fovea; color vision: achromatopsia; visual field: Normal; scotopic / photopic electroretinogram: reduced /reduced; glare: yes; nystagmus: no; progression: not available Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite achromatopsia Age/Examination 25y (25 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 2022-08-10 13:22:10 +02:00 (CEST) Date last edited N/A

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