Phenotype #0000129642

Individual ID 00164605
Associated disease OPA
Phenotype details -
Diagnosis/Initial optic atrophy
Inheritance Unknown
Diagnosis/Definite OPA-1
Age/Examination 38y (38 years)
Age/Diagnosis 31y-40y
Age/Onset -
Phenotype/Onset -
Birth_Details birth weight: ?
MotorSkills -
Vision/Abnormality nr
Hearing/Loss nr
Eye/Optic_Disc OD increased cup-to-disc ratio (HP:0012796) 0-0.4;OS increased cup-to-disc ratio (HP:0012796) 0-0.4;OD diffuse
Protein -
Brain/Imaging MRI;normal
Eye/OCT OD RNFL two or more;OS RNFL superior;cirrus
Vision/Field OD Humphrey;OD -4.01 to -12;OD centrocecal;OS Humphrey;OS -4.01 to -12;OS centrocecal;OS undefined
Vision/Acuity OD 1.0 LogMAR;OS light perception w/o projection
Vision/Colour OD protanopia;OS protanopia
Habits alcohol: occasionally;tobacco: >20 packs/year
Owner name Bastien Le Roux
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Marc Ferre
Date created 2018-06-01 18:39:38 +02:00 (CEST)
Date last edited 2018-11-16 15:42:11 +01:00 (CET)

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