Global Variome shared LOVD

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Phenotype #0000259577 Individual ID 00364239 Associated disease - Phenotype details At the age of 22 they met the criteria for Fishman category II. Their best corrected visual acuity was 0.2 (Snellen) in the right eye and 0.33 in the left. The foveolar thinkness was 28µm in the right eye and 77µm in the left eye. The macular volume was 1.64mm^3 in the right eye and 1.68mm^3 in the left eye. Diagnosis/Initial Stargardt disease Inheritance Unknown Diagnosis/Definite STGD1 Age/Examination - Age/Diagnosis - Age/Onset 17y Phenotype/Onset either patient’s age visual loss first noted or age documented in ophthalmic record first diagnosis 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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