Sorsby fundus dystrophy without a mutation in the TIMP-3 gene.

Sorsby fundus dystrophy without a mutation in the TIMP-3 gene. Research Abstract Details 

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Sorsby fundus dystrophy without a mutation in the TIMP-3 gene. Abstract Text:

AIMS: To examine a large family with an autosomal dominant fundus dystrophy and to investigate whether or not mutations in TIMP-3 gene were involved. METHODS: A large family of 58 individuals with an autosomal dominant fundus dystrophy was examined ophthalmologically. A DNA linkage analysis in the 22q12.1-q13.2 region was performed. The TIMP-3 gene was screened for mutations in all five exons. RESULTS: In this large family 15 individuals were affected. All other individuals were found to be clinically unaffected. Pisciform flecks in the midperiphery and drusen-like deposits were the most typical ophthalmological finding in this family and were encountered from the fifth decade on. Chorioretinal atrophy and neovascularisation with disciform lesions characterised the disease from the sixth decade on. Linkage analysis using an affected only analysis, showed a maximum positive lod score of 3.94 at theta = 0.0 with marker D22S283. No mutations possibly causing Sorsby fundus dystrophy were found in either the exonic sequences, the promotor region, or the 3'UTR. CONCLUSION: The family in this pedigree has an autosomal dominant fundus dystrophy, which is most probably Sorsby fundus dystrophy. Although, in the linkage analysis, significant positive lod scores were found with the region 22q12.1-q13.2, no causative mutations could be identified in the TIMP-3 gene.

Sorsby fundus dystrophy without a mutation in the TIMP-3 gene. Publishing Authors By Initials

For similar proteins: tissue inhibitor of metalloproteinases: tissue inhibitor of metalloproteinase-3 research abstracts see: proteins: tissue inhibitor of metalloproteinases: tissue inhibitor of metalloproteinase-3 research

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Sorsby fundus dystrophy without a mutation in the TIMP-3 gene. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: The British journal of ophthalmology

VOLUME: 84

Page Numbers: 682-6

Journal Abbreviation: Br J Ophthalmol

ISSN: 0007-1161

DAY: 28

MONTH: Jul

YEAR: 2000

Sorsby fundus dystrophy without a mutation in the TIMP-3 gene. Information

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LANGUAGE: eng

NlmUniqueID: 421041

Sorsby fundus dystrophy without a mutation in the TIMP-3 gene. Keywords Mesh Terms:

KEYWORDS: Tissue Inhibitor of Metalloproteinase-3

MESH TERMS: genetics

Chemical & Substance for Abstract: Sorsby fundus dystrophy without a mutation in the TIMP-3 gene. Information

Substance Name: DNA

Registry Number: 9007-49-2

Grant and Affiliation Information for Sorsby fundus dystrophy without a mutation in the TIMP-3 gene.

AFFILIATION: Department Ophthalmogenetics, The Netherlands Ophthalmic Research Institute, Netherlands.

Country: ENGLAND

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MEDLINETA: Br J Ophthalmol

REFSOURCE: Br J Ophthalmol. 2000 Jul;84(7):679-80

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