biostudies-literatureGarland DLNEI NIH HHSNIAID NIH HHSNCI NIH HHS52-68https://www.ebi.ac.uk/biostudies/studies/S-EPMC3857944biostudies-literatureUnknown23(1)Macular degenerations, inherited and age related, are important causes of vision loss. Human genetic studies have suggested perturbation of the complement system is important in the pathogenesis of age-related macular degeneration. The mechanisms underlying the involvement of the complement system are not understood, although complement and inflammation have been implicated in drusen formation. Drusen are an early clinical hallmark of inherited and age-related forms of macular degeneration. We studied one of the earliest stages of macular degeneration which precedes and leads to the formation of drusen, i.e. the formation of basal deposits. The studies were done using a mouse model of the inherited macular dystrophy Doyne Honeycomb Retinal Dystrophy/Malattia Leventinese (DHRD/ML) which is Human molecular geneticsMouse genetics and proteomic analyses demonstrate a critical role for complement in a model of DHRD/ML, an inherited macular degeneration.PMC3857944P30 CA010815AI068730EY020633R01 EY020633P01 AI068730P30 EY014104CA010815Garland DLSpeicher KDFernandez-Godino RKaur IHarnly JMSpeicher DWPierce EALambris JDfalseMouse genetics and proteomic analyses demonstrate a critical role for complement in a model of DHRD/ML, an inherited macular degeneration.Macular degenerations, inherited and age related, are important causes of vision loss. Human genetic studies have suggested perturbation of the complement system is important in the pathogenesis of age-related macular degeneration. The mechanisms underlying the involvement of the complement system are not understood, although complement and inflammation have been implicated in drusen formation. Drusen are an early clinical hallmark of inherited and age-related forms of macular degeneration. We studied one of the earliest stages of macular degeneration which precedes and leads to the formation of drusen, i.e. the formation of basal deposits. The studies were done using a mouse model of the inherited macular dystrophy Doyne Honeycomb Retinal Dystrophy/Malattia Leventinese (DHRD/ML) which is 2014-01-01T00:00:00Z2014 Jan2026-04-16T15:36:33.505Z2019-03-27T01:18:16ZS-EPMC38579442394378910.1093/hmg/ddt395