Phenotype #0000307585

Individual ID 00415807
Associated disease -
Phenotype details best corrected visual acuity right, left eye: <20/120, <20/120; refraction right, left eye: 0.0, 0.0 +1.0/100deg; fundus: modified fundus reflex; optical coherence tomography: no data; fundus autofluorescence: no data; color vision (test method): no data; full-field electroretinogram: no data; photophobia: yes; nystagmus: yes
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite achromatopsia/CD
Age/Examination 10y (10 years)
Age/Diagnosis -
Age/Onset 2y
Phenotype/Onset 2y: 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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