Peters anomaly

Peters anomaly is a rare congenital eye disorder classified as an anterior segment dysgenesis. It is characterized by a central corneal opacity (leukoma) present at birth, along with defects in the posterior layers of the cornea (Descemet membrane and endothelium) and adhesions (synechiae) between the iris and the cornea. The condition primarily affects the anterior segment of the eye and can lead to significant visual impairment or blindness if untreated. Peters anomaly is typically divided into two types: Type I involves central corneal opacity with iridocorneal adhesions but without lens involvement, while Type II includes corneolenticular adhesions or contact, often with cataracts and more severe visual compromise. The condition may be unilateral or bilateral, with bilateral cases tending to be more severe. Peters anomaly can occur as an isolated ocular finding or as part of a broader syndrome known as Peters plus syndrome, which includes short stature, brachydactyly, developmental delay, and characteristic facial features. Isolated Peters anomaly has been associated with mutations in several genes involved in anterior segment development, including PAX6, PITX2, PITX3, FOXC1, FOXE3, and CYP1B1. Peters plus syndrome is caused by mutations in the B3GLCT gene. Glaucoma is a frequent and serious complication, occurring in approximately 50-70% of affected individuals, and can be difficult to manage. Treatment of Peters anomaly is challenging and often requires a multidisciplinary approach. Corneal transplantation (penetrating keratoplasty) may be performed to restore corneal clarity, though graft survival rates in infants and young children are lower than in adults due to a higher risk of rejection and other complications. Management of associated glaucoma may involve medical therapy, surgical procedures such as goniotomy, trabeculotomy, or glaucoma drainage devices. Early intervention is critical to prevent amblyopia, and affected children typically require long-term ophthalmologic follow-up. Optical rehabilitation, including contact lenses and visual aids, may also be necessary to optimize visual outcomes.

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