Global Variome shared LOVD

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Phenotype #0000307584 Individual ID 00415806 Associated disease - Phenotype details best corrected visual acuity right, left eye: 20/200, 20/200; refraction right, left eye: -4.5 -4/180deg, -3.25 -4.5/180deg; fundus: modified fundus reflex; optical coherence tomography: foveal hyporeflective ellipsoid zone; fundus autofluorescence: no data; color vision (test method): tritanomaly; full-field electroretinogram: photopic: severely reduced flicker: severely reduced scotopic: normal; photophobia: yes; nystagmus: yes Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite achromatopsia Age/Examination 18y (18 years) Age/Diagnosis - Age/Onset <8y Phenotype/Onset early childhood: poor vision, nystagmus 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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