BACKGROUND Peters' anomaly (PA) is a rare form of anterior segment dysgenesis characterized by corneal opacity with varied degree of anterior chamber affection with associated defects in the posterior layers of the cornea. CASE PRESENTATION We report the case of a 3-month-old male infant with bilateral corneal opacity since birth who was transferred from the pediatric unit for further ophthal...

Peters Plus syndrome (PPS), a congenital disorder of glycosylation, results from recessive mutations affecting the glucosyltransferase B3GLCT, leading to congenital corneal opacity and diverse extra-ocular manifestations. Together with the fucosyltransferase POFUT2, B3GLCT adds Glucoseβ1-3Fucose disaccharide to a consensus sequence in thrombospondin type 1 repeats (TSRs) of several proteins. Wh...

An 18-year-old man presented with poor vision in both eyes that had been present since birth. Central corneal opacity and inferior peripheral sclerocornea with iridocorneal adhesion were observed upon anterior segment examination of the left eye. A coloboma of the iris was observed in the patient's right eye, which manifested as a small notch in the inferior pupillary margin and cataract. Fundu...

A premature female infant underwent her first ophthalmologic examination at the age of 4 weeks. The initial examination of the baby was requested for evaluation of a 'white spot' on the surface of her right eye. She had been hospitalized in the neonatal intensive care unit because of systemic abnormalities, such as a right clavicle fracture and microcephaly. Slit-lamp examination of the right e...

PURPOSE The migratory neural crest cell population makes a significant contribution to the anterior segment structures of the eye. Consequently, several anterior segment dysgenesis phenotypes are associated with mutations in genes expressed during neural crest development. The forkhead box D3 (FOXD3) gene encodes a forkhead transcription factor that plays an important role in neural crest speci...