Phenotype #0000348720

Individual ID	00461220
Associated disease	OPA
Phenotype details	see paper; ..., insidous onset; best corrected visual acuity (first visit) OD 0.15/OS 0.15; fundus oculi (first visit) OD temporal pallor/OS temporal pallor; OCT OD diffuse thinning/OS diffuse thinning; flash visual evoked potentials PL, DA (OD/OS);
Diagnosis/Initial	optic atrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	7y (7 years)
Age/Diagnosis	-
Age/Onset	5y
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
Created by	Johan den Dunnen
Date created	2025-01-31 10:20:27 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD