Phenotype #0000260097

Individual ID	00364759
Associated disease	-
Phenotype details	LogMAR visual acuity for the right and left eye was 0.5 and 0.4. Fundus photography identified symmetrical yellowish-white fine dots at the central macula ; there were also numerous peripheral yellowish-white flecks. Autofluorescence (AF) imaging showed well-defined dots of high AF signal corresponding to the macular dots seen clinically.
Diagnosis/Initial	Stargardt disease
Inheritance	Unknown
Diagnosis/Definite	STGD1
Age/Examination	-
Age/Diagnosis	-
Age/Onset	8y
Phenotype/Onset	which visual loss was first noted by the subject or in the asymptomatic subjects when abnormal retinal appearance was first detected
Protein	-
Owner name	Stéphanie Cornelis
Database submission license
Created by	Stéphanie Cornelis
Date created	2021-05-03 14:25:36 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD