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Genetic and Rare Diseases Information Center (GARD)

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Doyne honeycomb retinal dystrophy


Other Names for this Disease

  • DHD
  • DHRD
  • Doyne honeycomb degeneration of retina
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Overview

Doyne honeycomb retinal dystrophy (DHRD) is a disorder that affects the eyes. It is characterized by small, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium (a layer of cells deep in the retina that helps maintain the function of the photoreceptor cells). Over time, drusen may enlarge and come together, creating a honeycomb pattern. It typically begins in early to mid adulthood, but age of onset varies. The degree of gradual vision loss varies among affected individuals. DHRD is usually caused by mutations in the EFEMP1 gene and is inherited in an autosomal dominant manner.[1][2][3]
Last updated: 2/10/2012

References

  1. Evans K. et al. Assessment of the phenotypic range seen in Doyne honeycomb retinal dystrophy. Arch Ophthalmol. 1997; 115(7):904-910.
  2. Marla J. F. O'Neill. DOYNE HONEYCOMB RETINAL DYSTROPHY; DHRD. OMIM. December 1, 2009; http://omim.org/entry/126600. Accessed 2/10/2012.
  3. Doyne Honeycomb Degeneration of the Retina. University of Arizona. 2010; http://disorders.eyes.arizona.edu/category/alternate-names/doyne-honeycomb-degeneration-retina. Accessed 2/10/2012.
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In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Doyne honeycomb retinal dystrophy. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • DHD
  • DHRD
  • Doyne honeycomb degeneration of retina
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.