A Long-Term Retrospective Natural History Study of <i>EFEMP1</i>-Associated Autosomal Dominant Drusen-Reference-Cited by-同舟云学术

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A Long-Term Retrospective Natural History Study of EFEMP1-Associated Autosomal Dominant Drusen

Published:2024-06-20 Issue:6 Volume:65 Page:31
ISSN:1552-5783
Container-title:Investigative Ophthalmology & Visual Science
language:en
Short-container-title:Invest. Ophthalmol. Vis. Sci.

Author:

de Guimarães Thales A. C.¹²,Kalitzeos Angelos¹²,Mahroo Omar A.¹²,van der Spuy Jacqueline¹²,Webster Andrew R.¹²,Michaelides Michel¹²

Affiliation:

1. UCL Institute of Ophthalmology, University College London, London, United Kingdom

2. Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Reference24 articles.

1. The gene responsible for autosomal dominant Doyne's honeycomb retinal dystrophy (DHRD) maps to chromosome 2p16;Gregory;Hum Mol Genet,1996

2. A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy;Stone;Nat Genet,1999

3. Linkage of autosomal dominant radial drusen (Malattia Leventinese) to chromosome 2p16-21;Héon;Arch Ophthalmol,1996

4. Compromised mutant EFEMP1 secretion associated with macular dystrophy remedied by proteostasis network alteration;Hulleman;Mol Biol Cell,2011

5. 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;Marmorstein;Hum Mol Genet,2007

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