Phenotype #0000311017

Individual ID 00419737
Associated disease -
Phenotype details best corrected visual acuity right, left eye: 6/60, 6/36; refraction right, left eye: -3.75/-2.25*10, -1.50/-2.25*1; fundus: abnormal; photophobia: yes; nystagmus: yes; lack of color discrimination since childhood; intense uneasiness during daylight with normal night vision; relatively normal appearing fundus with mild myopic astigmatism; electroretinogram photopic responses: severely reduced
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite achromatopsia
Age/Examination 30y (30 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 2022-10-22 11:47:35 +02:00 (CEST)
Date last edited N/A

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