Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 06-11-2017

Symbol	BSVD
Location	13q34
Name	brain small vessel disease with or without ocular anomalies
Corresponding gene	COL4A1
Main clinical features	retinal arteriolar tortuosity, including retinal hemorrhage, additional ocular featuresincluded strabismus, myopia, increased intraocular pressure, glaucoma; microcornea, corneal opacities, with corneal neovascularization neuroimaging showed diffuse leukoencephalopathy associated with dilated perivascular spaces, and silent microbleeds mainly in the deep white matter
Genetic determination	autosomal dominant
Function/system disorder	cardiovascular
	neurology
	eye
Type	disease

Remark(s)