Phenotype #0000348651

Individual ID 00461151
Associated disease OPA
Phenotype details see paper; ..., insidous onset; best corrected visual acuity (first visit) OD 0.05/OS 0.05; fundus oculi (first visit) OD temporal pallor/OS temporal pallor; visual field OD -10,58/OS -13,04; flash visual evoked potentials PL, DA (OD/OS);
Diagnosis/Initial optic atrophy
Inheritance Familial, autosomal dominant
Diagnosis/Definite -
Age/Examination 37y (37 years)
Age/Diagnosis -
Age/Onset 36y
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 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2025-01-31 10:20:27 +01:00 (CET)
Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.