Global Variome shared LOVD

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Phenotype #0000348644 Individual ID 00461144 Associated disease OPA Phenotype details see paper; ..., congenital; best corrected visual acuity (first visit) OD light perception/OS light perception; fundus oculi (first visit) OD diffuse pale optic disc, ARV, TD, SRD/OS diffuse pale optic disc, ARV, tapetoretinal degeneration, sand-like retinal degeneration; flash visual evoked potentials PL (OD/OS); electrophysiology severely reduced (rod/cone); wandering movement; abnormal white matter signal; developmental delay, hypotonia Diagnosis/Initial optic atrophy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 4y (4 years) Age/Diagnosis - Age/Onset infant 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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