Global Variome shared LOVD

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Phenotype #0000291729 Individual ID 00398642 Associated disease - Phenotype details best corrected visual acuity: right eye, 20/200, left eye, 20/100, full-field photopic electroretinography right /left eye: a wave, b wave, flicker:3/8, 6/11, 5.1/3.6, optical coherence tomography: foveal atrophy with cavitationboth eyes, fundus autofluorescence: punched-out hypofluoresence Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite achromatopsia Age/Examination 52y (52 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 2022-01-07 19:12:05 +01:00 (CET) Date last edited N/A

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