Peters anomaly is a subtype of anterior segment dysgenesis. It is a developmental disorder that presents with central corneal opacity (leukoma), iris and lenticular adhesions to the cornea, and lack of the posterior corneal stroma, and Descemet's membrane. Approximately half of patients develop glaucoma. The majority of cases are sporadic; however, autosomal recessive and dominant patterns of inheritance have been found. Peters-plus syndrome is a rare autosomal recessive genetic disorder including ocular features, systemic malformations, and variable degree of developmental delay. It is caused by mutations in B3GALTL gene.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Structural developmental anomalies primarily affecting one body system
Structural developmental anomalies of the eye, eyelid or lacrimal apparatus
LA11 Structural developmental anomalies of the anterior segment of eye
H01075 Peters anomaly
