Malattia leventinese/doyne honeycomb retinal dystrophy: Similarities to age-related macular degeneration and potential therapies

Research output: Chapter in Book/Report/Conference proceedingChapter

7 Scopus citations

Abstract

Fibulin-3 (F3) is a secreted, disulfide-rich glycoprotein which is expressed in a variety of tissues within the body, including the retina. An Arg345Trp (R345W) mutation in F3 was identified as the cause of a rare retinal dystrophy, Malattia Leventinese/Doyne Honeycomb Retinal Dystrophy (ML/DHRD). ML/ DHRD shares many phenotypic similarities with age-related macular degeneration (AMD). The most prominent feature of ML/DHRD is the development of radial or honeycomb patterns of drusen which can develop as early as adolescence. Two independent mouse models of ML/DHRD show evidence of complement activation as well as retinal pigment epithelium (RPE) atrophy, strengthening the phenotypic connection with AMD. Because of its similarities with AMD, ML/DHRD is receiving increasing interest as a potential surrogate disease to study the underpinnings of AMD. This mini-review summarizes the current knowledge of F3 and points toward potential therapeutic strategies which directly or indirectly target cellular dysfunction associated with R345W F3.

Original languageEnglish (US)
Title of host publicationAdvances in Experimental Medicine and Biology
PublisherSpringer New York LLC
Pages153-158
Number of pages6
Volume854
DOIs
StatePublished - Oct 1 2016

Publication series

NameAdvances in Experimental Medicine and Biology
Volume854
ISSN (Print)00652598
ISSN (Electronic)22148019

Keywords

  • Age-related macular degeneration
  • Drusen
  • Fibulin-3
  • Malattia leventinese/Doyne honeycomb retinal dystrophy
  • Protein misfolding
  • Retinal degeneration
  • Therapeutics

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)

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  • Cite this

    Hulleman, J. D. (2016). Malattia leventinese/doyne honeycomb retinal dystrophy: Similarities to age-related macular degeneration and potential therapies. In Advances in Experimental Medicine and Biology (Vol. 854, pp. 153-158). (Advances in Experimental Medicine and Biology; Vol. 854). Springer New York LLC. https://doi.org/10.1007/978-3-319-17121-0_21