Global Variome shared LOVD

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Phenotype #0000300750 Individual ID 00408632 Associated disease - Phenotype details 54y: visual distortion right eye; best corrected visual acuity right, left eye: 6/7.5, 6/6; fundoscopy showed macular drusen and large pigmented epithelial detachments; vision deteriorated 3 months later and the spectral domain optical coherence tomography showed increased sub-macular exudation with enlarged pigmented epithelial detachments; polypoidal choroidal vasculopathy was suspected due to the configuration of large sero-sanguinous pigmented epithelial detachment with adjacent shallow pigmented epithelial detachments. This diagnosis was confirmed on indocyanine angiography, Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite Sorsby fundus dystrophy Age/Examination 54y (54 years) Age/Diagnosis - Age/Onset 54y Phenotype/Onset visual distortion 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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