Global Variome shared LOVD

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Phenotype #0000292940 Individual ID 00399899 Associated disease - Phenotype details At the age of 40, the logMAR visual acuity for the right eye was 1. The autofluorescence type was described as multiple low signal areas at the posterior pole with a heterogeneous background. The size of the atrophy was 20.4mm^2. Diagnosis/Initial Stargardt disease, type 1 (STGD1) Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 28y Phenotype/Onset The logMAR visual acuity for the right eye was 0.48. The autofluorescence type was described as a localized low signal at the macula surrounded by a heterogeneous background with numerous foci of abnormal signal. The size of the atrophy was 6.41mm^2. Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2022-01-24 10:46:49 +01:00 (CET) Date last edited N/A

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