Phenotype #0000275816

Individual ID 00381974
Associated disease -
Phenotype details visual acuity : od: 0.1 , os: 0.1; fundus: normal, with slight pigmentary changes; color vision: severely impaired; electroretinography: scotopic: normal, photopic: severely diminished with only residual responses, 30 hz flicker: no response, ; photophobia: yes; nystagmus : no; progression: no
Diagnosis/Initial achromatopsia
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 56y (56 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2021-09-06 15:38:00 +02:00 (CEST)
Date last edited N/A

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