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. |
Last name | ROULEZ |
Initials | FM |
Department | Department of pediatric ophthalmology, HUDERF, ULB |
City | Brussels / Sierre |
Last name | FAES |
Initials | F |
Department | Department of neuropediatry, Ghent University |
City | Ghent |
Last name | VERHEULPEN |
Initials | D |
Department | Department of neuropediatry Erasme, ULB |
City | Brussels |
Last name | WERMENBOL |
Initials | V |
Department | Department of neuropediatry Erasme, ULB |
City | Brussels |
Last name | DE ZAEYTIJD |
Initials | J |
Department | Department of ophthalmology, Ghent University |
City | Ghent |
Last name | DEPASSE |
Initials | F |
Department | Department of ophthalmology, Erasme ULB |
City | Brussels |
Last name | DELBEKE |
Initials | P |
Department | Department of ophthalmology, Ghent University |
City | Ghent |
Last name | COUCKE |
Initials | PJ |
Department | Department of medical genetics, Ghent University |
City | Ghent |
Last name | MEIRE |
Initials | FM |
Department | Department of pediatric ophthalmology, HUDERF, ULB |
City | Brussels |