Wagner's disease was originally described in 1938. This disorder is frequently confused with Stickler's syndrome, but lacks the systemic features and high incidence of retinal detachments. Erosive vitreoretinopathy was described in 1994 by Brown et al and has a higher incidence of rhegmatogenous retinal detachments than Wagner's disease, but lacks the systemic features which characterizes Stickler's syndrome.
Fundus photograph from a patient with erosive vitreoretinopathy. The retinal pigment epithelium is atrophic, revealing the underlying choroid. The retinal vessels are also attenuated, and scattered bone-spicule pigmentation can be seen.
We used linkage analysis to determine the molecular relationship between Stickler's syndrome, Wagner's disease, and erosive vitreoretinopathy. Following the exclusion of the collagen II gene locus on chromosome 12 for both Wagner's disease and erosive vitreoretinopathy, a genome wide search was started. Interestingly, both Wagner's disease and erosive vitreoretinopathy mapped to the long arm of chromosome 5. The eventual isolation of the gene responsible will lead to increased understanding of the development of the vitreous and retina. This, in turn, will increase our knowledge about the cause of retinal detachments.
