Stickler syndrome is a fairly common autosomal dominantly inherited disease characterized by a high incidence of retinal detachments, joint problems, cataracts, and facial and dental abnormalities. The retinal detachments are often complex and difficult to repair, and are associated with an abnormality of the interface between the retina and the vitreous jelly. This abnormality is known as lattice degeneration and is much more common than the Stickler syndrome itself. Lattice degeneration is thought to play an important role in a large proportion of non-Stickler retinal detachments. It is hoped that by understanding the pathophysiology of Stickler retinal detachments, that we can gain further insight into the pathogenesis of detachments associated with common lattice degeneration.
Stickler patients often suffer complicated retinal detachments that require specialized vitrectomy surgery to repair. Here, sulfur hexafluoride gas has been injected into the eye to help reattach the retina.
In 1987, Francomano, et al. used chromosome linkage analysis to implicate a collagen gene (2A) in Stickler syndrome. In 1991, Ahmad, et al actually identified a mutation in this collagen gene in a family with Sticklers. In 1992, we identified a second collagen mutation in one of the eight families with Stickler syndrome that we have been studying. We have subsequently identified four additional Stickler mutations.
Molecular analysis of a family with Stickler Syndrome. The presence of a mutation in the collagen 2 gene creates a distinctive 5 band pattern on the gel. Note that all clinically affected patients (black pedigree symbols) have the same pattern.
