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Sorsby's fundus dystrophy is genetically linked to chromosome 22q13–qter

Nature Genetics volume 7, pages 158–161 (1994)Cite this article

Abstract

Sorsby's fundus dystrophy (SFD) is an autosomal dominant macular degeneration developing in the third or fourth decade. Patients lose central vision from subretinal neovascularization and atrophy of the choriocapillaris, pigment epithelium and retina. SFD shares some striking clinical features with age–related macular degeneration (AMD), the most common cause of blindness in western countries thereby providing a valuable genetic model for AMD. To map the SFD locus, we performed linkage analysis in a single large SFD family. After exclusion of approximately 65% of the autosomal genome, we found significant linkage to several markers from chromosome 22. Recombinant chromosomes sublocalize the SFD gene to 22q13–qter between D22S275 and D22S274.

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Authors and Affiliations

  1. Institut für Humangenetik, Biozentrum, Am Hubland, D-97074, Würzburg, Germany

    Bernhard H.F. Weber, Gudrun Vogt & Werner Wolz

  2. Memorial University of Newfoundland, Division of Community Medicine, St. John's, New Foundland, Canada, A1B 3V6

    Elizabeth J. Ives

  3. Department of Ophthalmology, University of Saskatchewan, Saskatoon, Canada, S7K 0M7

    Cecil C. Ewing

Authors
  1. Bernhard H.F. Weber
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  2. Gudrun Vogt
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  3. Werner Wolz
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  4. Elizabeth J. Ives
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  5. Cecil C. Ewing
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Weber, B., Vogt, G., Wolz, W. et al. Sorsby's fundus dystrophy is genetically linked to chromosome 22q13–qter. Nat Genet 7, 158–161 (1994). https://doi.org/10.1038/ng0694-158

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