Phenotype #0000300724

Individual ID	00408606
Associated disease	-
Phenotype details	bilateral central vision loss 52y, intraretinal fluid and pigment epithelial detachment; retinal pigment epithelium detachment and intraretinal cystic spaces consistent with the choroidal neovascularization observed clinically; increased reflectivity at the level of the retinal pigment epithelium-choroid complex both eyes; fundus autofluorescence: areas of irregular hyper and hypofluorescence in eyes with vision loss;
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	Sorsby fundus dystrophy
Age/Examination	53y (53 years)
Age/Diagnosis	-
Age/Onset	45y
Phenotype/Onset	-
Protein	dimerizes in culture cells and retains its MMP inhibitory activity
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-04-25 12:49:38 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD