| Title |
Congenital Fixed Dilated Pupils Due to ACTA22 Multisystemic Smooth Muscle Dysfunction Syndrome |
| Creator |
Roulez, Francoise MJ; Faes, Fran; Delbeke, Patricia; Van Bogaert, Patrick; Rodesch, Georges; De Zaeytijd, Julie; Depasse, Fanny; Coucke, Paul J; Meire, Francoise M |
| 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 |
| 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. |
| Subject |
Actins; Adolescent; Female; Humans; Magnetic Resonance Imaging; Muscle, Smooth; Muscular Diseases; Pupil Disorders; Young Adult |
| Format |
application/pdf |
| Publication Type |
Journal Article |
| Collection |
Neuro-Ophthalmology Virtual Education Library: Journal of Neuro-Ophthalmology Archives: https://novel.utah.edu/jno/ |
| Publisher |
Lippincott, Williams & Wilkins |
| Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah |
| Rights Management |
© North American Neuro-Ophthalmology Society |
| Setname |
ehsl_novel_jno |
| ID |
227579 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s63j6k3m/227579 |
