How does Stickler syndrome affect the eyes?

How does Stickler syndrome affect the eyes?

Extreme myopia (nearsightedness) is one of the earliest and most characteristic signs of Stickler Syndrome. The associated thin peripheral retina can lead to retinal breaks, holes, and retinal detachment and scarring which can permanently reduce vision.

Does Stickler syndrome affect the retina?

Vitreoretinal degeneration also places individuals with Stickler syndrome at risk for retinal detachment, which can affect one or both eyes. Retinal detachment occurs when the retina pulls away or is separated (detaches) from the underlying tissue. In some cases, small tears may occur in the retina as well.

What is Stickler syndrome facial features?

Children who have Stickler syndrome often have distinctive facial features — prominent eyes, a small nose with a scooped-out facial appearance and a receding chin. They are often born with an opening in the roof of the mouth (cleft palate).

How is sticklers syndrome diagnosed?

While Stickler syndrome can sometimes be diagnosed based on your child’s medical history and a physical exam, additional tests are needed to determine the severity of the symptoms and help direct treatment decisions. Tests may include: Imaging tests. X-rays can reveal abnormalities or damage in the joints and spine.

What are the different types of Stickler syndrome?

There are five types of Stickler syndrome: Stickler syndrome type I, Stickler syndrome type II, Stickler syndrome type III, Stickler syndrome type IV, and Stickler syndrome type V. Individuals with Stickler syndrome type I tend to have milder hearing loss, nearsightedness, and type 1 membranous vitreous anomaly.

What part of the body does Stickler syndrome affect?

Stickler syndrome is a genetic disorder that affects connective tissues primarily in the face, ears, eyes and joints. This hereditary condition causes distinctive facial abnormalities. It can lead to problems with vision, hearing and movement. Doctors usually diagnose Stickler syndrome in babies and children.

What does Pierre Robin syndrome look like?

Babies born with Pierre Robin sequence commonly experience trouble breathing and feeding early on, resulting from the tongue’s position, smaller jaw size and the cleft palate formation. Additional symptoms of Pierre Robin sequence include: Repeated ear infections. Natal teeth, or teeth that are present at birth.

Can you have Stickler syndrome without cleft palate?

We now know that sub-mucous and high-arched palates (but not cleft lip) are commonly associated with Stickler Syndrome. Other facial abnormalities can include micrognathia (one jaw shorter than the other) and a flat face with a small nose and little or no nasal bridge. Happily, appearance tends to improve with age.

What gene causes Stickler syndrome?

Stickler syndrome is caused by genetic changes (genetic changes or pathogenic variants) in one of six genes: COL2A1, COL11A1, COL11A2, COL9A1, COL9A2, or COL9A3. The syndrome can be inherited in an autosomal dominant or autosomal recessive manner.

What are the 3 main features of Pierre Robin syndrome?

Pierre Robin sequence is also known as Pierre Robin syndrome or Pierre Robin malformation. It is a rare congenital birth defect characterized by an underdeveloped jaw, backward displacement of the tongue and upper airway obstruction. Cleft palate is also commonly present in children with Pierre Robin sequence.

Can Stickler syndrome skip a generation?

Unlike some genetic syndromes, a person will not have a “carrier” gene for this disorder that can be passed on to the next generation without the parent having Stickler syndrome themselves.