Global Variome shared LOVD

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Phenotype #0000261869 Individual ID 00366531 Associated disease - Phenotype details Patients III3 and III6 with STGD-FFM phenotype 2, associating macular atrophy, yellow-white dots, hyperfluorescent atrophic spots, and silent choroid, developed diffuse macular, peripapillary, and RPE atrophy extending beyond the vascular arcades. The yellow-white dots in the midperiphery regressed to be replaced by numerous atrophic dots. Full-field ERG showed both 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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