Peter's anomaly-A homeotic gene disorder

Abstract

Peter's anomaly is a rare form of congenital anterior segment dysgenesis of the eye. Varying degrees of central corneal opacity and lenticulo-corneal or irido-corneal synechiae are the key hallmarks. The association of Peter's anomaly along with short stature, rhizomelia, broad short hands or brachydactyly, with facial dysmorphism, cleft lip, cleft palate, genitourinary and cardiovascular anomalies is a distinct and is often termed Peter's plus syndrome. Early detection is imperative to prevent sensory deprivation amblyopia. Glaucoma can be present at initial diagnosis or at any stage later, but treatment can be difficult. For the dense leukoma, corneal graft may be needed but visual prognosis is poor. Research focussing on gene editing and regenerative medicine using native corneal endothelial cells is ongoing.

Keywords: Peter's anomaly; corneal opacity; glaucoma; keratoplasty; visual ambylopia.