Global Variome shared LOVD

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Phenotype #0000291690 Individual ID 00398571 Associated disease - Phenotype details visual acuity right/left eye: 0.86/0.88, fundus macular appearance: blunted foveal re���ex both eyes, color vision (anomaloscope): matched (0���73), electroretinography, scotopic: normal, single-���ash b-wave: moderately reduced, 32-Hz flicker: non-detectable, spectral-domain optical coherence tomography: loss and disruption of inner segment/outer segment junction of the photoreceptors (large bubble) in the fovea, adaptive optics cone Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite achromatopsia Age/Examination 33y (33 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 2022-01-06 18:51:58 +01:00 (CET) Date last edited N/A

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