Global Variome shared LOVD

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Phenotype #0000263825 Individual ID 00368487 Associated disease - Phenotype details Fundus at central retina: Yellow triradiate flecks in the posterior pole; Fundus at peripheral retina: Yellow and gray triradiate flecks in mid-periphery; autofluorescence; Some flecks were hyper-AF and others were hypo-AF; OCT: Irregular aspect or disruption of the EZ and IZ limited to the foveal region. CRT = 286 um RE/287 um LE; Clinical diagnosis: Multifocal PD simulating Fundus Flavimaculatus Diagnosis/Initial multifocal PD simulating fundus flavimaculatus Inheritance Unknown Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 37y Phenotype/Onset Metamorphopsia Protein - Owner name Stéphanie Cornelis Database submission license Creative Commons Attribution 4.0 International Created by Stéphanie Cornelis Date created 2021-05-03 14:25:36 +02:00 (CEST) Date last edited N/A

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