Global Variome shared LOVD

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Phenotype #0000057806 Individual ID 00078031 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details Stargardt disease/Bulls-eye maculopathy; y12, OD: visual acuity 20/50, A widened empty cavity characterized by a total absence of the EZ band was observed across the fovea on SD-OCT in some patients. Some granular deposits of residual debris were visibly attached to the concavely arched ELM of the lesion. The increased reflectivity of the ELM above the cavitation was seen in some cases. A relatively larger, horizontally-elongated lesion resembling an elliptical bull’s eye lesion within a hyperautofluorescent halo was observed on AF imaging in some patients, OS: visual acuity 20/50, A widened empty cavity characterized by a total absence of the EZ band was observed across the fovea on SD-OCT in some patients. Some granular deposits of residual debris were visibly attached to the concavely arched ELM of the lesion. The increased reflectivity of the ELM above the cavitation was seen in some cases. A relatively larger, horizontally-elongated lesion resembling an elliptical bull’s eye lesion within a hyperautofluorescent halo was observed on AF imaging in some patients; y11: localized macular lesion exhibiting a smooth contour and qualitatively normal-appearing surrounding retina without flecks and visual acuity of 0.4 OD, 0.4 OS. Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset 10y Phenotype/Onset unknown Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Stéphanie Cornelis Database submission license Creative Commons Attribution 4.0 International Created by Stéphanie Cornelis Date created 2016-02-22 12:22:09 +01:00 (CET) Date last edited N/A

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