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© 1992 Oxford University Press

RESEARCH-ARTICLE

Genetic linkage of autosomal dominant neovascular inflammatory vitreoretinopathy to chromosome 11q13

Edwin M. Stone*, Alan E. Kimura, James C. Folk, Steven R. Bennett2, Brian E. Nichols, Luan M. Streb and Val C. Sheffield1

Departments of Ophthalmology, The University of Iowa Hospitals and Clinics Iowa City, IA 52242 1Departments of Pediatrics, The University of Iowa Hospitals and Clinics Iowa City, IA 52242 2VitreoRetinal Surgery P.A., Minneapolis, MN 55435, USA

* To whom correspondence should be addressed

Received September 10, 1992; Revised September 23, 1992; Accepted September 23, 1992

Autosomal dominant neovascular inflammatory vitreoretinopathy (ADNTV) is an inherited eye disease characterized by retinal and iris neovascularization, abnormal retinal pigmentation, anterior chamber and vitreous inflammation, cystold macWar edema, vitreous hemorrhage, and traction retinal detachment. Some of these clinical features are shared by more common, potentially blinding, conditions including diabetic retinopathy, uveitis, and retinitis pigmentosa. Elucidation of the molecular pathogenesis ADNIV has the potential to provide insight into the mechanisms of these common disorders. One hundred and sixteen members of an eight generation family affected with ADNIV were examined. A combination of slit lamp biomicroscopy, ophthalmoscopy, and electroretinography was used to establish the diagnosis and 34 family members were found to be affected. Blood samples were obtained from thirty-three of these individuals and nine spouses and used for chromosome linkage analysis with denaturing gradient gel and short tandem repeat polymorphisms. Two markers that map to chromosome 11q13 were found to be significantly linked to the ADNIV phenotype. There were no recombinants between the disease phenotype and marker D11S527 and multipoint analysis yielded a maximum LOD score of 11.9 centered on this marker.


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