Global Variome shared LOVD

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Phenotype #0000263632 Individual ID 00368294 Associated disease - Phenotype details At the age of 40, BCVA (RE/LE) was 0 / 0.1 . Ff-ERG showed normal scotopic responses, but reduced (over 2 SDs) photopic B-wave and 30-Hz flicker amplitudes in the right eye and normal scotopic responses, but reduced (over 2 SDs) photopic B-wave and 30-Hz flicker amplitudes in the left eye. More information can be found in Müller et al., 2020. Diagnosis/Initial Stargardt disease Inheritance Unknown Diagnosis/Definite STGD1 Age/Examination - Age/Diagnosis - Age/Onset 11y-40y Phenotype/Onset self reported onset 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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