Global Variome shared LOVD

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Phenotype #0000259493 Individual ID 00364155 Associated disease - Phenotype details At age 66 the patient is smoking. Their history was: Negative and their BCVA (Right eye / Left eye) was: 20/160 / 20/32. Color vision was: Protan Tritan. Binocular perimetry was: Paracentral scotoma 40°. Fundus results were: Macular chorioretinal atrophy and resorption of flecks. Autofluorescence results were: Extensive fundus changes. There was Atrophy RPE. Peripapillary Sparing status was: Yes. SD-OCT: 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 66y 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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