Stickler syndrome

The Stickler syndrome is a hereditary vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence (see this term), bone disease, and deafness (10% of cases).

The incidence at birth was estimated to be about 1/7, 500.

The eye disease may include juvenile cataract, myopia, strabismus, vitreoretinal or corioretinal degeneration, retinal detachment, and chronic uveitis. The skeletal anomalies include platispondilia slight and large epiphyses, often with abnormalities. The laxidez articulate youth is followed by early signs of arthrosis.

The syndrome is usually transmitted as an autosomal dominant genetically heterogeneous. The type 1 Stickler syndrome is caused by mutations in the COL2A1 gene (12q13.11-Q13.2), the type 2 Stickler syndrome is caused by mutations in the gene COL11A1 (1p21) and Stickler syndrome type 3 (without ocular signs; see this term) is caused by mutations in the COL11A2 gene (6p21.3). Was also described in a Moroccan family, an autosomal recessive form of Stickler syndrome associated with mutations in geneCOL9A1 (6q12-q14).

Diagnosis

Diagnosis is based on clinical and can be confirmed by molecular analysis.

The prenatal diagnosis is possible for families in which the disease causative mutation was identified.

Management should be multidisciplinary and how the clinical expression is highly variable, the treatment needs to be tailored to each case.

The prognosis depends on the severity of signs present.