Phenotype #0000300746

Individual ID	00408628
Associated disease	-
Phenotype details	sudden-onset reduced vision in his left eye; best corrected visual acuity right, left eye: 6/6, counting fingers, fluorescein angiography: left eye subfoveal classic choroidal neovascularization; family history: his grandmother and uncle had also been diagnosed with age-related macular degeneration; 69y: best corrected visual acuity 6/36 in the right eye; funduscopy: bilateral drusen with macular haemorrhage in the right eye and a left disciform scar; fluorescein angiography: revealed a peripapillary choroidal neovascularization treated with radiotherapy, vision had decreased further in 1 year to 6/60
Diagnosis/Initial	age-related macular degeneration
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	Sorsby fundus dystrophy
Age/Examination	70y (70 years)
Age/Diagnosis	-
Age/Onset	64y
Phenotype/Onset	sudden-onset reduced vision left eye
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-04-25 14:32:19 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD