Global Variome shared LOVD

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Phenotype #0000298704 Individual ID 00406206 Associated disease - Phenotype details chief complaint: photophobia, best corrected visual acuity right/left eye: 0 / 0, refractive errors (diopters) right/left eye: -0.5 / -0.5; fundus: atrophy along the arcade, vessel attenuation, foveal sparing, fundus autofluorescence: ring of high density, low density areas along the arcade, foveal sparing, spectral domain optical coherence tomography: outer retinal disruption at in the peri-macula, preservation of ellipsoid zone line at the fovea, bull's eye pattern (parafoveal atrophy) Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite cone-rod dystrophy Age/Examination 72y (72 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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