Autosomal recessive Stickler syndrome

Autosomal recessive Stickler syndrome is a rare inherited connective tissue disorder that belongs to the broader group of Stickler syndromes (hereditary arthro-ophthalmopathies). Unlike the more common autosomal dominant forms, this recessive form is caused by biallelic pathogenic variants in genes encoding type IX or type XI collagen, specifically COL9A1, COL9A2, COL9A3, or COL11A2. These collagens are critical structural components of cartilage, the vitreous humor of the eye, and other connective tissues throughout the body. The condition primarily affects the skeletal, ocular, and auditory systems. Key clinical features include early-onset osteoarthritis, joint hypermobility, spondyloepiphyseal dysplasia, midface hypoplasia, and sensorineural or mixed hearing loss. Ocular involvement varies depending on the specific gene affected; notably, variants in COL11A2 (which is not expressed in the vitreous) tend to cause a non-ocular form of the disease, while variants in COL9A1, COL9A2, or COL9A3 may be associated with vitreoretinal abnormalities and an increased risk of retinal detachment. Cleft palate, including Pierre Robin sequence, may also occur. There is currently no cure for autosomal recessive Stickler syndrome. Management is multidisciplinary and symptomatic, involving regular ophthalmologic surveillance with prophylactic treatment for retinal detachment when indicated, audiologic monitoring and hearing aids or cochlear implants for hearing loss, orthopedic management for joint and skeletal problems, and speech therapy or surgical intervention for craniofacial anomalies. Early diagnosis and coordinated care are essential to optimize outcomes and quality of life for affected individuals.

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