Question: What are the genetic changes related to osteoporosis-pseudoglioma syndrome ?
Answer: Osteoporosis-pseudoglioma syndrome is caused by mutations in the LRP5 gene. This gene provides instructions for making a protein that participates in a chemical signaling pathway that affects the way cells and tissues develop. In particular, the LRP5 protein helps regulate bone mineral density and plays a critical role in development of the retina. LRP5 gene mutations that cause osteoporosis-pseudoglioma syndrome prevent cells from making any LRP5 protein or lead to a protein that cannot function. Loss of this protein's function disrupts the chemical signaling pathways that are needed for the formation of bone and for normal retinal development, leading to the bone and eye abnormalities characteristic of osteoporosis-pseudoglioma syndrome.
Source: GHR

Question: What are the treatments for osteoporosis-pseudoglioma syndrome ?
Answer: These resources address the diagnosis or management of osteoporosis-pseudoglioma syndrome: - Genetic Testing Registry: Osteoporosis with pseudoglioma - Lucile Packard Children's Hospital at Stanford: Juvenile Osteoporosis - MedlinePlus Encyclopedia: Bone Mineral Density Test - Merck Manual Home Health Edition: Osteoporosis 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