Phenotype #0000307580

Individual ID 00415802
Associated disease -
Phenotype details best corrected visual acuity right, left eye: 20/200, 20/200; refraction right, left eye: +2.0+2.0/105deg, +2.5+1.5/75deg; fundus: normal; optical coherence tomography: no data; fundus autofluorescence: no data; color vision (test method): abnormal (Ishihara), color vision possible in daily life; full-field electroretinogram: photopic: no response scotopic: normal; photophobia: yes; nystagmus: yes
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite achromatopsia
Age/Examination 3m
Age/Diagnosis -
Age/Onset 3m
Phenotype/Onset 3 months: rotatory nystagmus, poor 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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