Global Variome shared LOVD

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Phenotype #0000261872 Individual ID 00366534 Associated disease - Phenotype details patients III8 and III10 presented initial phenotype 4 STGD (Stargardt fundus flavimaculatus, later age of onset) with central atrophy, yellow-white dots, macular atrophy, hyperfluorescent atrophic spots, and silent choroid. After 9-year progression of the disease, both presented CRD with diffuse macular, peripapillary, and peripheral RPE atrophy, regression of the yellow-white dots, and hyperfluorescent dots. Full-field ERG showed severe altered photopic and scotopic responses. Diagnosis/Initial Stargardt disease Inheritance Familial, autosomal recessive Diagnosis/Definite STGD1 Age/Examination - Age/Diagnosis - Age/Onset - 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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