Global Variome shared LOVD

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

Phenotype #0000307905 Individual ID 00416139 Associated disease - Phenotype details best corrected visual acuity right/left eye: 0.1/0.16; electroretinogram signals, scotopic: borderline normal, photopic: severely reduced; color vision: impaired; optical coherence tomography: retinal pigment epithelium, outer segments of the photoreceptors absent, outer limiting membrane present, , inner limiting membrane present, ; nystagmus, past: yes, at present: yes; photophobia: yes Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite achromatopsia Age/Examination 19y (19 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-08-23 17:29:26 +02:00 (CEST) Date last edited N/A

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