Global Variome shared LOVD

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Phenotype #0000253969 Individual ID 00358754 Associated disease OCMD Phenotype details asymptomatic; fundus normal right eye macular drusen, left eye epiretinal membrane ; fundus autofluorescence imaging normal; foveal appearance on spectral‐domain optical coherence tomography consistent with re macular drusen and le epiretinal membrane ; full‐field electroretinograms normal; pattern electroretinogram P50 components normal on left and mildly subnormal on right normal central multifocal electroretinogramss but mildly subnormal paracentral multifocal electroretinograms right eye Diagnosis/Initial occult macular dystrophy Inheritance Unknown Diagnosis/Definite - Age/Examination 73y (73 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-03-11 17:30:37 +01:00 (CET) Date last edited N/A

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