Phenotype #0000300725

Individual ID	00408607
Associated disease	-
Phenotype details	unilateral vision loss 48y, left eye showing no signs of choroidal neovascularization and maintaining good visual acuity; striking fundal appearance affected eye - widespread floccular yellow subretinal deposits, a large retinal pigment epithelial tear and evidence of extrafoveal neovascularization; 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 left eye did not have any evidence of choroidal neovascularization or vision loss, but the optical coherence tomography scan showed evidence of retinal atrophy, in particular the loss of the outer nuclear layer temporal to the fovea; fundus autofluorescence: areas of irregular hyper and hypofluorescence in eyes with vision loss. In the eye without vision loss fundus autofluoresence: no significant abnormality;
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	Sorsby fundus dystrophy
Age/Examination	51y (51 years)
Age/Diagnosis	-
Age/Onset	47y
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