Global Variome shared LOVD

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Phenotype #0000348659 Individual ID 00461159 Associated disease OPA Phenotype details see paper; ..., subcute onset; best corrected visual acuity (first visit) OD 0.05/OS 0.1; fundus oculi (first visit) OD diffuse pale optic disc/OS diffuse pale optic disc; OCT OD diffuse thinning/OS diffuse thinning; visual field OD -17,25/OS -16,55; flash visual evoked potentials PL (OD/OS); electrophysiology normal (rod/cone); Diagnosis/Initial optic atrophy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 23y (23 years) Age/Diagnosis - Age/Onset 10y Phenotype/Onset - Birth_Details - MotorSkills - Vision/Abnormality - Hearing/Loss - Eye/Optic_Disc - Protein - Brain/Imaging - Eye/OCT - Vision/Field - Vision/Acuity - Vision/Colour - Habits - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-01-31 10:20:27 +01:00 (CET) Date last edited N/A

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