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Titel

Syndromic Congenital Aplasia of Iris Sphincter

Doel	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.
Methodes	We describe ophthalmological manifestations in 2 patients with congenital mydriasis and multisystemic smooth muscle dysfunction associated with R179H mutation in the ACTA2 gene.
Resultaten	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.
Conclusie	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

Naam	ROULEZ
Initialen	FM
Instituut	Department of pediatric ophthalmology, HUDERF, ULB
Stad	Brussels / Sierre

Auteur 2

Naam	FAES
Initialen	F
Instituut	Department of neuropediatry, Ghent University
Stad	Ghent

Auteur 3

Naam	VERHEULPEN
Initialen	D
Instituut	Department of neuropediatry Erasme, ULB
Stad	Brussels

Auteur 4

Naam	WERMENBOL
Initialen	V
Instituut	Department of neuropediatry Erasme, ULB
Stad	Brussels

Auteur 5

Naam	DE ZAEYTIJD
Initialen	J
Instituut	Department of ophthalmology, Ghent University
Stad	Ghent

Auteur 6

Naam	DEPASSE
Initialen	F
Instituut	Department of ophthalmology, Erasme ULB
Stad	Brussels

Auteur 7

Naam	DELBEKE
Initialen	P
Instituut	Department of ophthalmology, Ghent University
Stad	Ghent

Auteur 8

Naam	COUCKE
Initialen	PJ
Instituut	Department of medical genetics, Ghent University
Stad	Ghent

Auteur 9

Naam	MEIRE
Initialen	FM
Instituut	Department of pediatric ophthalmology, HUDERF, ULB
Stad	Brussels