Global Variome shared LOVD

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Phenotype #0000263654 Individual ID 00368316 Associated disease - Phenotype details History: Visual impairment and night; blindness since childhood; negative family history. At the age of 23: BCVA (OD/OS): 0.05; 0.05 Fundus features: Bilateral retinal arteriolar attenuation, widespread RPE atrophy, pigment deposition, bilateral beatenbronze appearing macular lesions with yellow flecks around macula, pale optic disc Diagnosis/Initial Stargardt disease Inheritance Unknown Diagnosis/Definite STGD1 Age/Examination - Age/Diagnosis - Age/Onset <18y Phenotype/Onset unknown 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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