Early diagnosis of Stickler syndrome using a screening tool in children with Perthes disease

This study is all about helping children get an early diagnosis of a condition called Stickler syndrome. Stickler syndrome is a condition passed down through families that affects a protein in the body called collagen. Collagen is really important because it helps keep our body's connective tissues strong – these are the tissues that support our joints, eyes, ears, and the roof of our mouth. If someone has Stickler syndrome, they might have problems with their joints, hearing, or eyes. One of the most serious problems it can cause is with the eyes, where the light-sensitive layer at the back of the eye (called the retina) can come loose. This can lead to sight loss and even blindness.

The good news is that there's a treatment that can help prevent this sight loss if it's given early enough. However, many people don't know they have Stickler syndrome until much later. So, this study wants to create a simple way for doctors to spot it earlier. They plan to develop a special checklist based on information about a child's health history and their family's health. They will first test this checklist on children already diagnosed with Stickler syndrome and also on children without the condition to make sure it works well.

After that, they will use this new checklist on children who have Perthes disease. Perthes disease is a different, rare condition that affects the hip joint in children. The researchers want to see if any children with Perthes disease also show signs that they might have Stickler syndrome. If this screening tool is successful, it could help many children get diagnosed with Stickler syndrome earlier, allowing them to receive important eye treatments that could save their sight.