title: Bilateral ocular malformations in a newborn with normal karyotype: histologic findings.
abstract: Microphthalmos with cyst is a rare condition characterized by a small globe and an inferior uveoretinal coloboma. There is also a defect in the posterior aspect of the eye through which a cyst lined by neuroectodermically derived tissue protrudes into the orbit. A case of isolated bilateral colobomatous and cystic microphthalmos is reported in an otherwise healthy child, showing no evidence of chromosomal abnormalities. Microscopic findings in the enucleated eye consisted of iris and retinal dysgenesis, ectopia lentis, persistent anterior tunica vasculosa lentis and pupillary membrane, intrachoroidal smooth muscle, and optic nerve hypoplasia. In the orbital cyst, a thick membrane reminiscent of the retinal inner limiting membrane lay between the fibroadipose and vascularised outer wall and the inner neuroectodermal lining.
authors.affiliation: Department of Experimental Medicine and Pathology and the Institute of Opththalmology, University La Sapienza, Rome, Italy.
authors.forename: Irene
authors.initials: I
authors.lastname: Pecorella
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Novacco
authors.forename: Stefano
authors.initials: S
authors.lastname: Dadalt
authors.forename: Antonio
authors.initials: A
authors.lastname: Ciardi
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Salvati
authors.forename: Clemente
authors.initials: C
authors.lastname: Santillo
mesh_terms: D003103:Coloboma / Q000235:genetics / Q000473:pathology*; D003560:Cysts / Q000235:genetics / Q000473:pathology; D005124:Eye Abnormalities / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D008850:Microphthalmos / Q000235:genetics / Q000473:pathology*; D009916:Orbital Diseases / Q000235:genetics / Q000473:pathology