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Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese, Autosomal Dominant Drusen)

  • Stephen H. Tsang
  • Tarun Sharma
Chapter
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 1085)

Abstract

In these conditions, drusen are present in childhood, but patients are asymptomatic, with good vision, until their 40s or 50s. Drusen are seen at the macula, around the edge of the optic nerve and/or nasal to the disc, in a radiating pattern (in particular, temporal to macula, as in Figs. 18.1, 18.2, 18.3, 18.4 and 18.5). The periphery is usually spared. Drusen increase in size and number with age. Peripapillary drusen are a characteristic finding. Visual loss later in life is due to pigment hyperplasia, geographic atrophy, and choroidal neovascular membrane (Figs. 18.6 and 18.7). Variability in the clinical picture is common within families.

Keywords

Autosomal dominant Doyne dystrophy 

Suggested Reading

  1. Stone EM, Lotery AJ, Munier FL, Héon E, Piguet B, Guymer RH, et al. A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. Nat Genet. 1999;22:199–202.CrossRefGoogle Scholar
  2. Takeuchi T, Hayashi T, Bedell M, Zhang K, Yamada H, Tsuneoka H. A novel haplotype with the R345W mutation in the EFEMP1 gene associated with autosomal dominant drusen in a Japanese family. Invest Ophthalmol Vis Sci. 2010;51:1643–50.CrossRefGoogle Scholar

Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Jonas Children’s Vision Care, Bernard & Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative-Departments of Ophthalmology, Biomedical Engineering, Pathology & Cell Biology, Institute of Human Nutrition, Vagelos College of Physicians and Surgeons, Columbia UniversityNew YorkUSA
  2. 2.Department of Ophthalmology, Columbia UniversityEdward S. Harkness Eye Institute, NewYork-Presbyterian HospitalNew YorkUSA

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