Phenotype #0000300646

Individual ID	00408529
Associated disease	-
Phenotype details	Initially: serous retinal detachment in the macula, visual acuity decrease and central scotoma both eyes; progressive macular degeneration resulting in disciform macular scars, while the peripheral fundi remained uninvolved, with normal peripheral fields and electroretinograms; 70y unguided walk with preserved peripheral vision
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	Sorsby fundus dystrophy
Age/Examination	70y (70 years)
Age/Diagnosis	-
Age/Onset	52y
Phenotype/Onset	acute loss of right eye central vision 52 y, left eye 57y
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-04-22 14:00:33 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD