Phenotype #0000307881

Individual ID 00416115
Associated disease -
Phenotype details fundus/macular appearance: normal with preserved foveal reflex ; cone electroretinogram: flat; rod electroretinogram: normal; photophobia: yes; nystagmus: yes; best corrected visual acuity right, left eye: 0.2; color vision defects: severe; involved color axis: scotopic; refractive error: -6.50, -6.50; progression: no
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite complete achromatopsia
Age/Examination -
Age/Diagnosis -
Age/Onset 0m
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-08-23 11:25:14 +02:00 (CEST)
Date last edited N/A

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