In 1990, researchers at the University of Iowa described a new clinical syndrome known as autosomal dominant neovascular inflammatory vitreoretinopathy (abbreviated ADNIV). This disorder is characterized by inflammation, neovascularization, retinal detachments, vitreous hemorrhage and cystoid macular edema. Many of these features can also be found in other common diseases such as diabetic retinopathy (neovascularization, traction retinal detachment, and vitreous hemorrhage), and uveitis. We are excited that what appears to be a single gene defect can cause this complex constellation of findings. We are hopeful that understanding the precise molecular mechanism of ADNIV will help us understand some of its clinical features when they occur in association with other diseases.
Graduate student Brian Nichols and research assistant Luan Streb load gels with DNA for chromosome linkage analysis.
A drawing of chromosome 11 showing the relative positions of the Best's gene and ADNIV gene (discussed later in this report) on the long arm of chromosome 11.
In 1992, we used chromosome linkage analysis to establish that the gene that causes ADNIV is on the long arm of chromosome 11. It is very near the gene for Best's disease but we were able to obtain genetic evidence that these two diseases are caused by two different genes. In 1994, working with collaborators in Ohio, we identified a second family with ADNIV and showed that their disease-causing mutation also maps to chromosome 11. This additional family will increase our chances of isolating the ADNIV gene.
Scarred iris and cataract in patient with ADNIV.
