Question: How many people are affected by Peters plus syndrome ?
Answer: Peters plus syndrome is a rare disorder; its incidence is unknown. Fewer than 80 people with this condition have been reported worldwide.
Source: GHR

Question: What are the genetic changes related to Peters plus syndrome ?
Answer: Mutations in the B3GLCT gene cause Peters plus syndrome. The B3GLCT gene provides instructions for making an enzyme called beta 3-glucosyltransferase (B3Glc-T), which is involved in the complex process of adding sugar molecules to proteins (glycosylation). Glycosylation modifies proteins so they can perform a wider variety of functions. Most mutations in the B3GLCT gene lead to the production of an abnormally short, nonfunctional version of the B3Glc-T enzyme, which disrupts glycosylation. It is unclear how the loss of functional B3Glc-T enzyme leads to the signs and symptoms of Peters plus syndrome, but impaired glycosylation likely disrupts the function of many proteins, which may contribute to the variety of features.
Source: GHR

Question: What are the treatments for Peters plus syndrome ?
Answer: These resources address the diagnosis or management of Peters plus syndrome: - Gene Review: Gene Review: Peters Plus Syndrome - Genetic Testing Registry: Peters plus syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Source: GHR