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Congenital fixed dilated pupils due to ACTA2-Multisystemic smooth muscle dysfunction Syndrome

par Roulez, Françoise ;Faes, Fran;Delbeke, Patricia;Van Bogaert, Patrick ;Rodesch, Georges;De Zaeytijd, Julie;Depasse, Fanny ;Coucke, Paul;Meire, Françoise
Référence Journal of neuro-ophthalmology, 34, 2, page (137-143)
Publication Publié, 2014

Article révisé par les pairs

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Résumé :

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.