Arthro-ophthalmology or Stickler syndrome is an inherited congenital disorder that can affect sight, hearing, joint function and heart function. In addition, it may change appearance of the face and potentially palate formation. This condition is not curable, though there are many ways to mitigate its effects, and it can come in mild to severe forms.
The way Stickler syndrome is inherited is through an autosomal dominant pattern. One parent must have the condition in order for it to be expressed in a child, and this means a 50% chance a child will have it. Given that, a child with a parent with Stickler syndrome is likely to be investigated closely for evidence of the condition. Some children very obviously have the disorder at birth, and others have milder forms and wouldn’t automatically be suspected for the condition. When this is the case, and it’s known a parent has arthro-ophthalmology, careful surveillance of the child could be recommended to see if features of the disease develop.
Symptoms of this condition are many and varied. For instance, there are different ways in which this syndrome can affect sight. It may cause nearsightedness, changes to the way the eye holds vitreous fluid, floaters, risk for retinal detachment, clouded vision, and glaucoma. Blindness is a possibility as problems continue to emerge, though not all children and adults with Stickler experience this.
Hearing can become an issue too, particularly as children age. It is possible for total hearing loss to occur. On the other hand, sometimes impairment is mild and easily remedied with hearing aids.
Altered facial bone structure may be a hallmark of Stickler syndrome in some children. The nose can look overly small with the nose bridge absent. Moreover, the palate may also be affected and some kids have cleft palate troubles that must be repaired in infancy.
Joint problems can occur due to hyperflexibility, scoliosis is common, and some children with Stickler syndrome will also have heart trouble. Most often the mitral valve is affected, which might need repair during infancy or later.
This constellation of symptoms can be challenging to treat and many different specialists might be involved in treatment. Rheumatologists could address joint issues, cardiologists would manage mitral valve problems, and ophthalmologists could address compromise in sight. What is important to note is that there is great variation in expression of symptoms in Stickler syndrome. Not all children will have “worst case” scenario aspects of the disorder, and some might need minor intervention only. Treatment is hard to discuss because it always depends on severity of syndrome expression.
Under the majority of circumstances, Stickler syndrome is not fatal, though it can be degenerative. Early management may help restore plenty of function and allow children to be on par with their peers in school, though hearing and sight issues must be addressed for best success. In one sense the autosomal inheritance pattern of this disorder is a good thing because it automatically confirms risk to children and lets parents know they should be on the watch for any signs of the syndrome developing later in childhood, if they don’t first occur in infancy.
