Global Variome shared LOVD

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Phenotype #0000300749 Individual ID 00408631 Associated disease - Phenotype details 76y: reduced vision right eye; best corrected visual acuity right, left eye: was six of 9.5 in the right and hand movements left. Autofluorescence and multicolour images: bilateral macular atrophy, with right foveal sparing but left foveal involvement and fibrotic change; spectral domain optical coherence tomography: pigmented epithelial detachments with underlying hyper-reflective rings with small hypo-reflective lumens, representing polypoidal choroidal vasculopathy; exudates and minimal sub-retinal fluid were also seen along the left supero-temporal arcade Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite Sorsby fundus dystrophy Age/Examination 84y (84 years) Age/Diagnosis - Age/Onset 76y Phenotype/Onset reduced vision right eye Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-04-25 15:00:22 +02:00 (CEST) Date last edited N/A

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