Global Variome shared LOVD

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Phenotype #0000348668 Individual ID 00461168 Associated disease OPA Phenotype details see paper; ..., insidous onset; best corrected visual acuity (first visit) OD 0.3/OS 0.3; fundus oculi (first visit) OD diffuse pale optic disc, ARV, SRD, SRV/OS diffuse pale optic disc, ARV, sand-like retinal degeneration, SRV; electrophysiology severely reduced (rod/cone); bilateral nyctalopia, bilateral strabismus; hypotonia Diagnosis/Initial optic atrophy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 12y (12 years) Age/Diagnosis - Age/Onset childhood 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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