Skip to main content

Sorsby Fundus Dystrophy

  • Chapter
  • First Online:
  • 764 Accesses

Abstract

The inherited macular dystrophies comprise a heterogeneous group of disorders characterised by central visual loss and encompass a wide range of clinical, psychophysical, imaging and histopathological findings. The majority of disease-causing genes have now been identified. There are a small group of these disorders, including Sorsby fundus dystrophy, autosomal dominant drusen and late-onset retinal macular dystrophy, that present in later adult life and may be complicated by choroidal neovascularisation or macular atrophic changes similar to those seen in age-related macular degeneration.

This is a preview of subscription content, log in via an institution.

Buying options

Chapter
USD   29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD   119.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD   159.00
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD   159.00
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Learn about institutional subscriptions

References

  1. Berninger TA, Polkinghorne PJ, Capon MR, Arden GB, Bird AC. Color vision defect. A early sign of Sorsby retinal dystrophy? Ophthalmologe. 1993;90(5):515–8 [article in German].

    CAS  PubMed  Google Scholar 

  2. Kapoor KG, Bakri SJ. Intravitreal anti-vascular endothelial growth factor therapy for choroidal neovascularization due to Sorsby macular dystrophy. J Ocul Pharmacol Ther. 2013;29(4):444–7.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  3. Balaskas K, Hovan M, Mahmood S, Bishop P. Ranibizumab for the management of Sorsby fundus dystrophy. Eye (Lond). 2013;27(1):101–2.

    Article  CAS  Google Scholar 

  4. Weber BH, Vogt G, Pruett RC, Stohr H, Felbor U. Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby’s fundus dystrophy. Nat Genet. 1994;8(4):352–6.

    Article  CAS  PubMed  Google Scholar 

  5. Felbor U, Stöhr H, Amann T, Schonherr U, Weber BH. A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby’s fundus dystrophy with unusual clinical features. Hum Mol Genet. 1995;4(12):2415–6.

    Article  CAS  PubMed  Google Scholar 

  6. Jacobson SG, Cideciyan AV, Bennett J, Kingsley RM, Sheffield VC, Stone EM. Novel mutation in the TIMP3 gene causes Sorsby fundus dystrophy. Arch Ophthalmol. 2002;120(3):376–9.

    Article  CAS  PubMed  Google Scholar 

  7. Chong NH, Alexander RA, Gin T, Bird AC, Lutert PJ. TIMP-3, collagen, and elastin immunohistochemistry and histopathology of Sorsby’s fundus dystrophy. Invest Ophthalmol Vis Sci. 2000;41(3):898–902.

    CAS  PubMed  Google Scholar 

  8. Capon MR, Marshall J, Krafft JI, Alexander RA, Hiscott PS, Bird AC. Sorsby’s fundus dystrophy. A light and electron microscopic study. Ophthalmology. 1989;96(12):1769–77.

    Article  CAS  PubMed  Google Scholar 

  9. Stöhr H, Anand-Apte B. A review and update on the molecular basis of pathogenesis of Sorsby fundus dystrophy. Adv Exp Med Biol. 2012;723:261–7.

    Article  PubMed  Google Scholar 

  10. Jacobson SG, Cideciyan AV, Regunath G, Rodriguez FJ, Vandenburgh K, Sheffield VC, Stone EM. Night blindness in Sorsby’s fundus dystrophy reversed by vitamin A. Nat Genet. 1995;11(1):27–32.

    Article  CAS  PubMed  Google Scholar 

  11. Majid MA, Smith VA, Easty DL, Baker AH, Newby AC. Sorsby’s fundus dystrophy mutant tissue inhibitors of metalloproteinase-3 induce apoptosis of retinal pigment epithelial and MCF-7 cells. FEBS Lett. 2002;529(2–3):281–5.

    Article  CAS  PubMed  Google Scholar 

  12. Qi JH, Ebrahem Q, Moore N, Murphy G, Claesson-Welsh L, Bond M, et al. A novel function for tissue inhibitor of metalloproteinases-3 (TIMP3): inhibition of angiogenesis by blockage of VEGF binding to VEGF receptor-2. Nat Med. 2003;9(4):407–15.

    Article  CAS  PubMed  Google Scholar 

  13. Weber BH, Lin B, White K, Kohler K, Soboleva G, Herterich S, et al. A mouse model for Sorsby fundus dystrophy. Invest Ophthalmol Vis Sci. 2002;43(8):2732–40.

    PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Michel Michaelides BSc, MBBS, MD, FRCOphth, FACS .

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2016 Springer International Publishing Switzerland

About this chapter

Cite this chapter

Michaelides, M., Moore, A. (2016). Sorsby Fundus Dystrophy. In: Querques, G., Souied, E. (eds) Macular Dystrophies. Springer, Cham. https://doi.org/10.1007/978-3-319-26621-3_7

Download citation

  • DOI: https://doi.org/10.1007/978-3-319-26621-3_7

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-26619-0

  • Online ISBN: 978-3-319-26621-3

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics