201. Congenital fixed dilated pupils due to ACTA2-Multisystemic smooth muscle dysfunction Syndrome
- Author
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Roulez, Françoise, Faes, Fran, Delbeke, Patricia, Van Bogaert, Patrick, Rodesch, Georges, De Zaeytijd, Julie, Depasse, Fanny, Coucke, Paul, Meire, Françoise, Roulez, Françoise, Faes, Fran, Delbeke, Patricia, Van Bogaert, Patrick, Rodesch, Georges, De Zaeytijd, Julie, Depasse, Fanny, Coucke, Paul, and Meire, Françoise
- 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. 2014 by North American Neuro-Ophthalmology Society., SCOPUS: ar.j, info:eu-repo/semantics/published
- Published
- 2014