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Titre

Syndromic Congenital Aplasia of Iris Sphincter

But	Congenital mydriasis, sometimes referred as fixed dilated pupils, is characterized by aplasia of the iris sphincter muscle. Iris morphology is pathognomonic, with absence of iris between collarette and pupillary border resulting in a scalloped pupillary margin. This developmental anomaly has sometimes been misdiagnosed as aniridia.
Méthodes	We describe ophthalmological manifestations in 2 patients with congenital mydriasis and multisystemic smooth muscle dysfunction associated with R179H mutation in the ACTA2 gene.
Résultats	Congenital mydriasis has been reported in a multisystemic smooth muscle dysfunction syndrome with congenital patent ductus arteriosus, cerebrovascular disease (Moya-moya,) coronary artery disease and thoracic aorta aneurysm and dysfunction of smooth muscle cells in organs throughout the body. All reported affected individuals carry a R179H heterozygous mutation in the ACTA2 gene.
Conclusion	Congenital mydriasis is a rare condition whose presence should alert pediatric ophthalmologists to the possibility of the co-existence of systemic life treating disorder.

Auteur 1

Nom	ROULEZ
Initiales	FM
Institut	Department of pediatric ophthalmology, HUDERF, ULB
Ville	Brussels / Sierre

Auteur 2

Nom	FAES
Initiales	F
Institut	Department of neuropediatry, Ghent University
Ville	Ghent

Auteur 3

Nom	VERHEULPEN
Initiales	D
Institut	Department of neuropediatry Erasme, ULB
Ville	Brussels

Auteur 4

Nom	WERMENBOL
Initiales	V
Institut	Department of neuropediatry Erasme, ULB
Ville	Brussels

Auteur 5

Nom	DE ZAEYTIJD
Initiales	J
Institut	Department of ophthalmology, Ghent University
Ville	Ghent

Auteur 6

Nom	DEPASSE
Initiales	F
Institut	Department of ophthalmology, Erasme ULB
Ville	Brussels

Auteur 7

Nom	DELBEKE
Initiales	P
Institut	Department of ophthalmology, Ghent University
Ville	Ghent

Auteur 8

Nom	COUCKE
Initiales	PJ
Institut	Department of medical genetics, Ghent University
Ville	Ghent

Auteur 9

Nom	MEIRE
Initiales	FM
Institut	Department of pediatric ophthalmology, HUDERF, ULB
Ville	Brussels