Global Variome shared LOVD

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Phenotype #0000298709 Individual ID 00406211 Associated disease - Phenotype details chief complaint: reduced visual acuity, best corrected visual acuity right/left eye: 0,15 / 0,4, refractive errors (diopters) right/left eye: +1.0 / +1.5; fundus: macular atrophy (slight), foveal sparing, fundus autofluorescence: ring of high density, foveal sparing, subtle change of high density at the macula,spectral domain optical coherence tomography: preservation of ellipsoid zone line at the fovea Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite cone-rod dystrophy Age/Examination 63y (63 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 2022-03-25 16:05:43 +01:00 (CET) Date last edited N/A

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