Eye features in three Danish patients with multisystemic smooth muscle dysfunction syndrome.

ABSTRACT:

Background

A de novo mutation of the ACTA2 gene encoding the smooth muscle cell α-actin has been established in patients with multisystemic smooth muscle dysfunction syndrome associated with patent ductus arteriosus and mydriasis present at birth.

Objective

To describe the structural ocular findings in three Danish children with this new syndrome and evaluate the possible functional consequences for visual development of the poorer imaging condition.

Results

Unresponsive mydriatic pupils with scalloping wisps of persistent pupillary membrane from the iris collarette were an early indicator of this rare genetic disorder in all three cases. Tortuousity of retinal arterioles was the main posterior pole finding, apparent during the first year of life and with a tendency t

SUBMITTER: Moller HU 

PROVIDER: S-EPMC4358743 | biostudies-literature | 2012 Sep

REPOSITORIES: biostudies-literature