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Malattia Leventinese/Doyne Honeycomb Retinal Dystrophy: Similarities to Age-Related Macular Degeneration and Potential Therapies

  • John D. HullemanEmail author
Conference paper
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 854)

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.

Keywords

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

Notes

Acknowledgments

This work was funded by an endowment from the Roger and Dorothy Hirl Research Fund, an NEI core grant (EY020799), a career development award from Research to Prevent Blindness (RPB), and an unrestricted grant from RPB. The author thanks Bonnie Miller and Rafael Ufret-Vincenty for their review of this manuscript

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Copyright information

© Springer International Publishing Switzerland 2016

Authors and Affiliations

  1. 1.Departments of Ophthalmology and PharmacologyUniversity of Texas Southwestern Medical CenterDallasUSA

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