Global Variome shared LOVD

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Phenotype #0000307579 Individual ID 00415801 Associated disease - Phenotype details best corrected visual acuity right, left eye: 20/200, 20/200; refraction right, left eye: -3.50 -1.25/95deg, -2.25 -1.25/85deg; fundus: Normal,, small peripheral pigment clump; optical coherence tomography: normal; fundus autofluorescence: normal; color vision (test method): abnormal (Ishihara, Farnsworth); full-field electroretinogram: photopic: no response flicker: no response scotopic: normal; photophobia: yes; nystagmus: no Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite achromatopsia Age/Examination 42y (42 years) Age/Diagnosis - Age/Onset 3y Phenotype/Onset 3y: poor vision and color vision, adaptation 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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