Global Variome shared LOVD

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Phenotype #0000300181 Individual ID 00408051 Associated disease - Phenotype details best corrected visual acuity right/left eye: 0.6/0.6, 14y: 0.2/0.2; refraction error (diopters) right/left eye: -4.00/-1.00 x 176 -3.75/-1.00 x 178; 14y: -5.25/-1.75 x 175 -5.50/-1.50 x 175, fundus 12 and 14y: macular atrophy, optical coherence tomography 12 and 14y: macular thinning/macular thinning; visual field right/left eye 12y: paracentral scotoma/central scotoma; 14y, central scotoma/ central scotoma; electroretinography 14y: mildly reduced cone response Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite late-onset cone-rod dystrophy Age/Examination 14y (14 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 2022-04-12 17:27:21 +02:00 (CEST) Date last edited N/A

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