Phenotype #0000317855

Individual ID	00426700
Associated disease	-
Phenotype details	VA:1.6/10(RE) - 2/10(LE); peripheral visual field was well represented, while the central one was almost absent; initial loss of color vision, photophobia, and a slow dark adaptation; bilateral anatrophic, rounded maculopathy with sharp edges, surrounded by pisciform flecks; mottled areas of hyperautofluorescence and hypoautofluorescence, corresponding to areas of lipofuscin accumulation and RPE atrophy...
Diagnosis/Initial	Stargardt disease (adSTGD)
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	42y (42 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Julia Lopez
Date created	2022-12-02 14:17:29 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD