What is the Stickler syndrome?
The Stickler syndrome is a relatively common (1 in 10,000) disease characterized by premature and severe osteoarthritis developing in the third decade.
The diagnosis should be suspected in any young adult with degenerative hip arthritis or any infant with congenitally swollen joints (especially wrists).
Other manifestations include myopia, retinal detachment, progressive sensorineural hearing loss, cleft palate, mandibular hypoplasia, and epiphyseal dysplasia.
The disease may result from mutations in COL2A1, COL11A1, and COL11A2 (nonocular form).
Patients with COL11A1 mutations have more severe eye involvement and hearing loss than patients with COL2A1 mutations.
Mutations in the type XI collagen gene (COL11A2) results in a lack of collagen type XI in the vitreous humor of the eye.
These patients do not have eye involvement but have severe hearing loss in addition to skeletal and joint manifestations.
- Congenital vitreoretinopathy associated with chorioretinal and vitreous degeneration caused by autosomal dominant inheritance of abnormal collagen type II or XI alleles (in COL2A1, COL11A1, or COL11A2) or autosomal recessive inheritance of abnormal collagen type 9 allele (in COL9A1)
- Characterized by ocular findings (eg, myopia, cataract, retinal detachment), mitral valve prolapse, hearing loss, midfacial hypoplasia, cleft palate, mild spondyloepiphyseal dysplasia, joint hypermobility, scoliosis, early arthritis, and possible Pierre Robin sequence
- Presents similarly to Marfan syndrome with abnormal skeletal findings, mitral valve prolapse, and ocular findings (eg, myopia, juvenile cataract, retinal detachment)
- Differentiated from Marfan syndrome by occurrence of chorioretinal atrophy plus vitreous degeneration, hearing loss, premature osteoarthritis, and cleft palate; patients do not have FBN1 pathologic variants responsible for Marfan syndrome
- Molecular diagnosis confirms the genetic mutations associated with hereditary progressive arthro-ophthalmopathy