Phenotype #0000180249

Individual ID 00240094
Associated disease OPA1
Phenotype details Moderate optic atrophy appeared in childhood, father suffering the same way. No other neurological signs mentioned.
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis 44y
Age/Onset -
Phenotype/Onset -
Vision/Acuity OD 0.4 LogMAR;OS 0.4 LogMAR
Vision/Colour -
Vision/Field -
Birth_Details -
Eye/Optic_Disc -
Eye/OCT -
Brain/Imaging -
MotorSkills -
Vision/Abnormality -
Hearing/Loss -
Protein -
Owner name Marc Ferre
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Marc Ferre
Date created 2019-06-11 11:52:08 +02:00 (CEST)
Date last edited N/A

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