title: Congenital mydriasis and prune belly syndrome in a child with an ACTA2 mutation.
abstract: We report the association of congenital mydriasis with prune belly syndrome and cerebrovascular anomalies in a 9-year-old boy who was found to have an ACTA2 mutation. This case illustrates the spectrum of systemic malformations that are attributable to mutations in ACTA2 and expands the spectrum of cerebrovascular anomalies that are now known to accompany congenital mydriasis.
authors.affiliation: Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota. Electronic address: brodsky.michael@mayo.edu.
authors.forename: Michael C
authors.initials: MC
authors.lastname: Brodsky
authors.affiliation: Department of Ophthalmology, Hacettepe University School of Medicine, Ankara, Turkey.
authors.forename: Kadriye Erkan
authors.initials: KE
authors.lastname: Turan
authors.affiliation: Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota.
authors.forename: Cheryl L
authors.initials: CL
authors.lastname: Khanna
authors.affiliation: Department of Medical Genetics Radiology, Mayo Clinic, Rochester, Minnesota.
authors.forename: Alice
authors.initials: A
authors.lastname: Patton
authors.affiliation: Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota.
authors.forename: Salman
authors.initials: S
authors.lastname: Kirmani
mesh_terms: D000199:Actins / Q000235:genetics*; D002561:Cerebrovascular Disorders / Q000235:genetics; D002648:Child; D004452:Echocardiography; D015785:Eye Diseases, Hereditary / Q000235:genetics*; D006801:Humans; D018810:Magnetic Resonance Angiography; D008297:Male; D015878:Mydriasis / Q000235:genetics*; D017354:Point Mutation; D011535:Prune Belly Syndrome / Q000235:genetics*; D042262:Retinoscopy; D014792:Visual Acuity
chemical_list: C541116:ACTA2 protein, human; D000199:Actins