Stickler syndrome is an autosomal-dominant inherited disorder that affects the connective tissue. While many affected patients are diagnosed in the infancy itself, diagnosis can be delayed due to variable expressivity.Most patients present with a wide range of eye and extraocular manifestations including auditory, skeletal, and orofacial abnormalities. Some patients, however, present without clinically apparent systemic findings. This observation has led to difficulty distinguishing Stickler phenotype from other hereditary vitreoretinal degenerations such as Wagner syndrome and Snowflake vitreoretinal degeneration.

Stickler syndrome is a genetically heterogeneous disorder resulting from mutations in at least three collagen genes. The majority of families with Stickler syndrome have mutations in the COL2A1 gene and show the characteristic type 1 vitreous phenotype. The remainder, with the type 2 vitreous phenotype, have mutations in COL11A1 or other loci. Mutations in COL11A2 can give rise to a syndrome with the systemic features of Stickler syndrome but no ophthalmological abnormality.