Global Variome shared LOVD

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Phenotype #0000259488 Individual ID 00364150 Associated disease - Phenotype details At age 72 the patient hasn't smoked. Their history was: Negative and their BCVA (Right eye / Left eye) was: 20/50 / 20/50. Color vision was: Normal. Binocular perimetry was: Paracentral scotoma 30°. Fundus results were: Extensive chorioretinal atrophy. Autofluorescence results were: Extensive fundus changes. There was Atrophy RPE. Peripapillary Sparing status was: Flecks. SD-OCT: Foveal sparing. All components of ERG are within normal ranges. Diagnosis/Initial Stargardt disease Inheritance Unknown Diagnosis/Definite STGD1 Age/Examination - Age/Diagnosis - Age/Onset 72y Phenotype/Onset Decreased VA 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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