@inbook{04c1d7ae8d7d4cd992b1e7578013ae52,
title = "Malattia leventinese/doyne honeycomb retinal dystrophy: Similarities to age-related macular degeneration and potential therapies",
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 = "Age-related macular degeneration, Drusen, Fibulin-3, Malattia leventinese/Doyne honeycomb retinal dystrophy, Protein misfolding, Retinal degeneration, Therapeutics",
author = "Hulleman, {John D.}",
year = "2016",
month = oct,
day = "1",
doi = "10.1007/978-3-319-17121-0_21",
language = "English (US)",
volume = "854",
series = "Advances in Experimental Medicine and Biology",
publisher = "Springer New York LLC",
pages = "153--158",
booktitle = "Advances in Experimental Medicine and Biology",
}