Phenotype #0000083703

Individual ID 00105807
Associated disease OPA
Phenotype details autosomal dominant optic atrophy; clinical info spans <11y, no clinical info relatives; complaints of fatigue and tingling ; vision loss evolution unknown; pure tone audiometry normal hearing (loss of 0-20dB); visual handicap: able to drive, eat, cook and buy food without help, no difficulty in social life; muscle biopsy not performed
Diagnosis/Initial optic atrophy
Inheritance Unknown
Diagnosis/Definite OPA-1
Age/Examination 73y (73 years)
Age/Diagnosis -
Age/Onset >50y
Phenotype/Onset -
Birth_Details -
MotorSkills walking with no technical assistance
Vision/Abnormality loss
Hearing/Loss -
Eye/Optic_Disc -
Protein -
Brain/Imaging -
Eye/OCT -
Vision/Field -
Vision/Acuity -
Vision/Colour -
Habits tobacco: none
Owner name Bjorn Oskarsson
Database submission license No license selected
Created by Bjorn Oskarsson
Date created 2016-02-23 00:36:20 +01:00 (CET)
Date last edited 2018-11-16 15:42:11 +01:00 (CET)

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