Stickler Syndrome (Hereditary Progressive Arthro-ophthalmopathy)

Synonyms

Hereditary progressive arthro-ophthalmopathy; Stickler syndrome membranous vitreous type; Stickler syndrome vitreous type I

Definition

Stickler syndrome type I is an autosomal-dominant progressive chondrodysplasia associated with vitreoretinal degeneration. It produces a variety of ocular, orofacial, and skeletal abnormalities.

Etiology

Stickler syndrome (type I) is due to an abnormality in the structural gene for type II collagen (COL2A1) on chromosome 12q13.11-q13.2. Most commonly, the abnormality is a premature stop codon mutation which produces COL2AI haploinsufficiency. Missense mutations can also occur. Stickler syndrome type I is different from Stickler syndrome type II, which involves an abnormality of the COL11A1 gene. Stickler syndrome type I is also different from Stickler syndrome type III, which displays no ocular abnormalities (Carr and Noble 1999; Edwards and Robertson 2006).

Clinical Presentation

Patients with Stickler syndrome (type I) present with early-onset...