The phenotypes of Stickler syndrome include congenital high myopia, retinal detachment, premature joint degeneration, hearing impairment and craniofacial anomalies, such as cleft palate and midline facial hypoplasia.1 The disease is caused by mutations of the COL2A1, COL9A1, COL11A1 or COL11A2 genes; these genes control the synthesis of type II, type IX and type XI collagens, respectively. This evidence concerns the gene COL2A1 and Stickler syndrome.