Global Variome shared LOVD

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Phenotype #0000307016 Individual ID 00415218 Associated disease - Phenotype details best corrected visual acuity right, left eye: 20/100 (+0.5 +2.0 90deg), 20/2000 (+1.0 +2.0 90deg); fundus: macular changes; optical coherence tomography: not available; color vision: achromatopsia; visual field: not available; scotopic / photopic electroretinogram: not available; glare: yes; nystagmus: nystagmus at age 5 months; progression: no Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite achromatopsia Age/Examination 42y (42 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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