Global Variome shared LOVD

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Phenotype #0000307580 Individual ID 00415802 Associated disease - Phenotype details best corrected visual acuity right, left eye: 20/200, 20/200; refraction right, left eye: +2.0+2.0/105deg, +2.5+1.5/75deg; fundus: normal; optical coherence tomography: no data; fundus autofluorescence: no data; color vision (test method): abnormal (Ishihara), color vision possible in daily life; full-field electroretinogram: photopic: no response scotopic: normal; photophobia: yes; nystagmus: yes Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite achromatopsia Age/Examination 3m Age/Diagnosis - Age/Onset 3m Phenotype/Onset 3 months: rotatory nystagmus, poor vision 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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