Global Variome shared LOVD

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Phenotype #0000307586 Individual ID 00415808 Associated disease - Phenotype details best corrected visual acuity right, left eye: 20/200, 20/200; refraction right, left eye: +1.75 -4.0/21deg, +0.25 -5.0/167deg; fundus: normal; optical coherence tomography: normal; fundus autofluorescence: normal; color vision (test method): no data; full-field electroretinogram: photopic: no response scotopic: normal; photophobia: yes; nystagmus: yes Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite incomplete achromatopsia Age/Examination 26y (26 years) Age/Diagnosis - Age/Onset <8y Phenotype/Onset early childhood: color vision problems Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-08-16 14:45:23 +02:00 (CEST) Date last edited N/A

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