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Case Reports
. 2014 Jun;34(2):137-43.
doi: 10.1097/WNO.0000000000000090.

Congenital fixed dilated pupils due to ACTA2- multisystemic smooth muscle dysfunction syndrome

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Case Reports

Congenital fixed dilated pupils due to ACTA2- multisystemic smooth muscle dysfunction syndrome

Françoise M J Roulez et al. J Neuroophthalmol. 2014 Jun.

Abstract

Congenital fixed dilated pupils (congenital mydriasis) is characterized by hypoplasia or aplasia of the iris muscles, with absence of iris between the collarette and pupillary border, creating a scalloped pupillary margin. This condition has been reported in a multisystemic smooth muscle cell dysfunction syndrome, combined with congenital patent ductus arteriosus, cerebrovascular disease (Moya-moya-like), coronary artery disease, thoracic aorta aneurysm, and dysfunction of smooth muscle cells in organs throughout the body. All affected individuals carry a p.R179H heterozygous mutation in the ACTA2 gene. We add to the ophthalmologic involvement with 3 more patients. Congenital fixed dilated pupils is a rare condition and should alert ophthalmologists to the possibility of the coexistence of systemic life-threatening disorders.

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