Global Variome shared LOVD

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Phenotype #0000292931 Individual ID 00399890 Associated disease - Phenotype details At the age of 57, the logMAR visual acuity for the right eye was 1.3. 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 20.91mm^2. Diagnosis/Initial Stargardt disease, type 1 (STGD1) Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 37y Phenotype/Onset The logMAR visual acuity for the right eye was 1.3. 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 8.11mm^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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