Phenotype #0000292932

Individual ID	00399891
Associated disease	-
Phenotype details	At the age of 29, the logMAR visual acuity for the right eye was 1. 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 0.43mm^2.
Diagnosis/Initial	Stargardt disease, type 1 (STGD1)
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	26y
Phenotype/Onset	The logMAR visual acuity for the right eye was 0.6. 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 <0.18mm^2.
Protein	-
Owner name	LOVD
Database submission license
Created by	Julia Lopez
Date created	2022-01-24 10:46:49 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD