Phenotype #0000307576

Individual ID 00415798
Associated disease -
Phenotype details best corrected visual acuity right, left eye: 20/125, 20/125; refraction right, left eye: 2.75 -0.75/168deg 3.0 -1.25/8deg; fundus: normal; optical coherence tomography: foveal inner limiting membrane thickening; fundus autofluorescence: normal; color vision (test method): achromat (anomaloscope); full-field electroretinogram: photopic: no response scotopic: normal; photophobia: yes; nystagmus: yes
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite complete achromatopsia
Age/Examination 25y (25 years)
Age/Diagnosis -
Age/Onset <18y
Phenotype/Onset childhood: low vision
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-08-16 14:45:23 +02:00 (CEST)
Date last edited N/A

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