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Journal of Neuro-Ophthalmology:
doi: 10.1097/WNO.0000000000000090
Original Contribution

Congenital Fixed Dilated Pupils Due to ACTA2– Multisystemic Smooth Muscle Dysfunction Syndrome

Roulez, Françoise M. J. MD; Faes, Fran MD; Delbeke, Patricia MD; Van Bogaert, Patrick MD, PhD; Rodesch, Georges MD, PhD; De Zaeytijd, Julie MD; Depasse, Fanny MD; Coucke, Paul J. PhD; Meire, Francoise M. MD, PhD

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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.

Copyright © 2014 by North American Neuro-Ophthalmology Society