Global Variome shared LOVD

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Phenotype #0000259491 Individual ID 00364153 Associated disease - Phenotype details At age 38 the patient hasn't smoked. Their history was: Negative and their BCVA (Right eye / Left eye) was: 20/320 / 20/250. Color vision was: Protan. Binocular perimetry was: Central scotoma 30°. Fundus results were: Extensive chorioretinal atrophy. Autofluorescence results were: Extensive fundus changes. There was Atrophy RPE. Peripapillary Sparing status was: Yes. SD-OCT: No foveal sparing. Abnormal amplitudes and implicit times in response to all the light adapted stimulations. Diagnosis/Initial Stargardt disease Inheritance Unknown Diagnosis/Definite STGD1 Age/Examination - Age/Diagnosis - Age/Onset 38y 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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