Hereditary progressive arthro-ophthalmopathy or Stickler syndrome , named after Dr. Gunnar Stickler, who first described it in 1960, is an inherited genetic disease that mainly affects collagen , the protein that forms the connective tissue of our body.
Connective tissue fulfills a support function for the different organs of the body, providing both support and elasticity, depending on the needs of each organ.
Stickler syndrome is characterized by the presence of alterations at the joint level, visual problems, different degrees of deafness and facial alterations.
Stickler syndrome is estimated to affect one in 7,500 live births each year. It is a dominant hereditary disease, that is, it is enough that a single copy of the gene is altered for the disease to occur. Different mutations of genes responsible for the synthesis of collagen located on various chromosomes, such as 1, 6 or 12, have been discovered.
Depending on the affectations, four subtypes of this syndrome have been described.
The symptoms and severity of Stickler syndrome are very varied, but there are essentially four target organs or systems for this disease:
-Locomotor system: patients can present different degrees of scoliosis of the spine together with vertebral malformations, alterations in the ends of long bones, such as the humerus or femur, excessively lax joints and early signs of osteoarthritis or arthritis.
-Ocular : these are patients with high myopia and who may have glaucoma (increased intraocular pressure), cataracts, increased risk of retinal detachment, strabismus, vitreous degeneration or chronic uveitis.
-Hearing: about 10% of patients with Stickler syndrome have a hearing deficit of a greater or lesser degree, which may be progressive or occur from the beginning.
Due to malformations of the facial bones, otitis media is also frequent during childhood. Both hearing and visual problems can affect the learning of children with this syndrome, but their intellectual abilities are not altered at any time by the fact of suffering from this disease.
-Facials: the face of patients with Stickler syndrome is usually flattened due to the lack of complete development of the facial bones. Both the nasal bridge and cheek bones are flatter than usual, the lower jaw is behind the upper jaw (micrognathia), the palate may be cleft, the uvula is split in two (uvula bifida), and the tongue is often it is excessively large, which can sometimes block the airway.
The diagnosis of Stickler syndrome is initially made based on the patient’s clinical picture and family history, and can be confirmed by molecular analysis. Prenatal diagnosis could be made if the specific abnormality of the gene that has caused the disease in the parents has been identified.
The treatment, as in any genetic disease, is not curative and must always be multidisciplinary depending on the effects of each patient. Follow-up by an ophthalmologist and a rheumatologist is imperative. Likewise, it may be necessary that they also be evaluated by an otolaryngologist and a maxillofacial surgeon depending on the specific alterations that each patient presents.
The prognosis depends on the severity of the affectations of each patient, but with the appropriate medical-surgical interventions these people do not have to see their life expectancy reduced.
- The diagnosis of Stickler syndrome is initially made based on the patient’s clinical picture and family history, and can be confirmed by molecular analysis.
- The treatment, as in any genetic disease, is not curative and must always be multidisciplinary depending on the effects of each patient.