Phenotype #0000307582

Individual ID 00415804
Associated disease -
Phenotype details best corrected visual acuity right, left eye: 20/240, 20/240; refraction right, left eye: -1.5 -1.0/10deg, -1.5 -1.0/170deg; fundus: normal, slightly pale; optical coherence tomography: no data; fundus autofluorescence: no data; color vision (test method): abnormal (Ishihara); full-field electroretinogram: no data; photophobia: yes; nystagmus: yes
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite achromatopsia
Age/Examination 38y (38 years)
Age/Diagnosis -
Age/Onset 11y
Phenotype/Onset 11y: nystagmus, photophobia
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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