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Article

Formation and progression of sub-retinal pigment epithelium deposits in Efemp1 mutation knock-in mice: a model for the early pathogenic course of macular degeneration

5 Apr 2007

Abstract excerpt

Malattia leventinese (ML) is a dominantly inherited macular degenerative disease characterized by the presence of sub-retinal pigment epithelium (RPE) deposits. With the exception of an earlier age of onset, ML patients exhibit symptoms and histopathology compatible with the diagnosis of age-related macular degeneration (AMD), the most common cause of incurable blindness. ML is caused by a mutation (R345W) in the...

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PMID: 17664227
DOI: 10.1093/hmg/ddm199

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Related research

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Click a neighbor to travelStep 1 · 12 closest

Formation and progression of sub-retinal pigment epithelium deposits in Efemp1 mutation knock-in mice: a model for the early pathogenic course of macular degenerationPMID 17664227Read ↗

The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in miceSemantic proximity Read ↗

Deletion of Efemp1 Is Protective Against the Development of Sub-RPE Deposits in Mouse Eyes.Semantic proximity Read ↗

Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration.Semantic proximity Read ↗

A local complement response by RPE causes early-stage macular degeneration.Semantic proximity Read ↗

Lack of fibulin-3 causes early aging and herniation, but not macular degeneration in miceSemantic proximity Read ↗

Mouse genetics and proteomic analyses demonstrate a critical role for complement in a model of DHRD/ML, an inherited macular degenerationSemantic proximity Read ↗

Complement C5 is Not Critical for the Formation of Sub-RPE Deposits in Efemp1 Mutant MiceSemantic proximity Read ↗

Complement C5 is not critical for the formation of sub-RPE deposits in Efemp1 mutant mice.Semantic proximity Read ↗

Fibulin-3 knockout mice demonstrate corneal dysfunction but maintain normal retinal integrity.Semantic proximity Read ↗

Complement C5 is not critical for the formation of sub-RPE deposits in <i>Efemp1</i> mutant miceSemantic proximity Read ↗

Changes in extracellular matrix cause RPE cells to make basal deposits and activate the alternative complement pathway.Semantic proximity Read ↗

Important anatomical, age-related, and species considerations regarding ocular fibulin-3 (EFEMP1) analysisSemantic proximity Read ↗

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