Global Variome shared LOVD

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Phenotype #0000307587 Individual ID 00415809 Associated disease - Phenotype details best corrected visual acuity right, left eye: 20/50, 20/63; refraction right, left eye: +8.0 -2.25/25deg, +8.0 -1.75/5deg; fundus: normal; optical coherence tomography: foveal inner limiting membrane thickening; fundus autofluorescence: normal; color vision (test method): nearly normal; full-field electroretinogram: photopic: no response scotopic: normal; photophobia: yes; nystagmus: yes Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite incomplete achromatopsia/O T Age/Examination 9y (9 years) Age/Diagnosis - Age/Onset 0m Phenotype/Onset congenital nystagmus Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-08-16 14:45:23 +02:00 (CEST) Date last edited N/A

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