Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

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 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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