title: Congenital fixed dilated pupils due to ACTA2- multisystemic smooth muscle dysfunction syndrome.
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.
authors.affiliation: Department of Pediatric Ophthalmology (FMJR, FMM), HUDERF, ULB, Brussels, Belgium; Departments of Neuropediatrics (FF) and Ophthalmology (PD, JDZ), Ghent University, Belgium; Department of Neuropediatrics (PVB), Erasme, ULB, Brussels, Belgium; Department of Neuroradiology (GR), Foch Hospital, Paris, France; Department of Ophthalmology (FD), Erasme, ULB, Brussels, Belgium; Department of Medical Genetics (PJC), Ghent University, Ghent, Belgium; and Vista Alpina (FMJR), Sierre, Switzerland.
authors.forename: Françoise M J
authors.initials: FM
authors.lastname: Roulez
authors.forename: Fran
authors.initials: F
authors.lastname: Faes
authors.forename: Patricia
authors.initials: P
authors.lastname: Delbeke
authors.forename: Patrick
authors.initials: P
authors.lastname: Van Bogaert
authors.forename: Georges
authors.initials: G
authors.lastname: Rodesch
authors.forename: Julie
authors.initials: J
authors.lastname: De Zaeytijd
authors.forename: Fanny
authors.initials: F
authors.lastname: Depasse
authors.forename: Paul J
authors.initials: PJ
authors.lastname: Coucke
authors.forename: Francoise M
authors.initials: FM
authors.lastname: Meire
mesh_terms: D000199:Actins / Q000235:genetics*; D000293:Adolescent; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D009130:Muscle, Smooth / Q000473:pathology*; D009135:Muscular Diseases / Q000150:complications / Q000235:genetics / Q000473:pathology*; D011681:Pupil Disorders / Q000150:complications / Q000235:genetics* / Q000473:pathology*; D055815:Young Adult
chemical_list: C541116:ACTA2 protein, human; D000199:Actins