Phenotype #0000307586

Individual ID 00415808
Associated disease -
Phenotype details best corrected visual acuity right, left eye: 20/200, 20/200; refraction right, left eye: +1.75 -4.0/21deg, +0.25 -5.0/167deg; fundus: normal; optical coherence tomography: normal; fundus autofluorescence: normal; color vision (test method): no data; full-field electroretinogram: photopic: no response scotopic: normal; photophobia: yes; nystagmus: yes
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite incomplete achromatopsia
Age/Examination 26y (26 years)
Age/Diagnosis -
Age/Onset <8y
Phenotype/Onset early childhood: color vision problems
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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