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This abstract is assigned to session Poster session in O'Bistro

Title

Syndromic Congenital Aplasia of Iris Sphincter

Purpose	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.
Methods	We describe ophthalmological manifestations in 2 patients with congenital mydriasis and multisystemic smooth muscle dysfunction associated with R179H mutation in the ACTA2 gene.
Results	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.

Authors 1

Last name	ROULEZ
Initials	FM
Department	Department of pediatric ophthalmology, HUDERF, ULB
City	Brussels / Sierre

Authors 2

Last name	FAES
Initials	F
Department	Department of neuropediatry, Ghent University
City	Ghent

Authors 3

Last name	VERHEULPEN
Initials	D
Department	Department of neuropediatry Erasme, ULB
City	Brussels

Authors 4

Last name	WERMENBOL
Initials	V
Department	Department of neuropediatry Erasme, ULB
City	Brussels

Authors 5

Last name	DE ZAEYTIJD
Initials	J
Department	Department of ophthalmology, Ghent University
City	Ghent

Authors 6

Last name	DEPASSE
Initials	F
Department	Department of ophthalmology, Erasme ULB
City	Brussels

Authors 7

Last name	DELBEKE
Initials	P
Department	Department of ophthalmology, Ghent University
City	Ghent

Authors 8

Last name	COUCKE
Initials	PJ
Department	Department of medical genetics, Ghent University
City	Ghent

Authors 9

Last name	MEIRE
Initials	FM
Department	Department of pediatric ophthalmology, HUDERF, ULB
City	Brussels