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

Edwin M Stone; Alan E Kimura; James C Folk; Steven R Bennett; Brian E Nichols; Luan M Streb; Val C Sheffield

doi:10.1093/hmg/1.9.685

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

Journal article

Peer reviewed

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

Edwin M Stone, Alan E Kimura, James C Folk, Steven R Bennett, Brian E Nichols, Luan M Streb and Val C Sheffield

Human molecular genetics, Vol.1(9), pp.685-689

12/1992

DOI: 10.1093/hmg/1.9.685

PMID: 1284594

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Abstract

Autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) is an inherited eye disease characterized by retinal and iris neovascularization, abnormal retinal pigmentation, anterior chamber and vitreous inflammation, cystoid macular 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 of 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.

Electroretinography

Retinal Diseases - genetics

Chromosome Banding

Humans

Middle Aged

Neovascularization, Pathologic

Male

Chromosome Mapping

Retinal Vessels

Genes, Dominant

Pedigree

Chromosomes, Human, Pair 13

Retinal Diseases - pathology

Adult

Female

Retinal Diseases - physiopathology

Genetic Linkage

Details

Title: Subtitle: Genetic linkage of autosomal dominant neovascular inflammatory vitreoretinopathy to chromosome 11q13
Creators: Edwin M Stone - Department of Ophthalmology, University of Iowa Hospitals and Clinics, Iowa City 52242
Alan E Kimura
James C Folk
Steven R Bennett
Brian E Nichols
Luan M Streb
Val C Sheffield
Resource Type: Journal article
Publication Details: Human molecular genetics, Vol.1(9), pp.685-689
DOI: 10.1093/hmg/1.9.685
PMID: 1284594
NLM abbreviation: Hum Mol Genet
ISSN: 0964-6906
eISSN: 1460-2083
Publisher: England
Grant note: HG00457 / NHGRI NIH HHS P30HD27748 / NICHD NIH HHS EY08426 / NEI NIH HHS
Language: English
Date published: 12/1992
Academic Unit: Stead Family Department of Pediatrics; The University of Iowa Institute for Vision Research; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
Record Identifier: 9983979929902771

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