Global Variome shared LOVD

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Phenotype #0000291692 Individual ID 00398573 Associated disease - Phenotype details visual acuity right/left eye: 0.92/0.94, fundus macular appearance: atrophic macular lesion both eyes, color vision (anomaloscope): matched (10���73), electroretinography, scotopic: moderately reduced amplitude, single-���ash b-wave: severely reduced, 32-Hz flicker: non-detectable, spectral-domain optical coherence tomography: loss of inner segment/outer segment junction of the photoreceptors and retinal pigment epithelium loss and thinning in the fovea and foveal hypoplasia, adaptive optics cone structur Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite achromatopsia Age/Examination 52y (52 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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