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Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • DHRD
  • Doyne honeycomb degeneration of retina
  • DHD
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Doyne honeycomb retinal dystrophy
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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]


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 Available at: http://omim.org/entry/126600. Accessed February 10, 2012.
  3. Doyne Honeycomb Degeneration of the Retina. University of Arizona. 2010 Available at: http://disorders.eyes.arizona.edu/category/alternate-names/doyne-honeycomb-degeneration-retina. Accessed February 10, 2012.
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More Detailed Information (Found 2 resources)
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    • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Doyne honeycomb retinal dystrophy. Click on the link to go to OMIM and review these resources.
    • 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.
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Organizations (Found 10 resources)
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    • DNAandU.org is a Web site and blog that collects firsthand stories from people facing issues, making tough decisions, and using genomic (DNA) information in their own healthcare.  Click on the link to learn from their experiences and/or submit your own story.

    • Madisons Foundation
      P.O. Box 241956
      Los Angeles, CA 90024
      Telephone: 310-264-0826
      Fax: 310-264-4766
      E-mail: getinfo@madisonsfoundation.org  
      Web site: http://www.madisonsfoundation.org/  
    • The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
    • RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
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Services (Found 4 resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories.

    • Many individuals want to know about healthcare professionals or researchers who have knowledge of their conditions. When a condition is rare, it can be difficult to find someone who has seen many cases. Although there is no list of experts in rare diseases, GARD's How to Find an Expert fact sheet provides several ways to identify healthcare professionals who have experience with a particular condition. Click on the link to access this resource and learn more.

  • Testing

    • GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
    • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Parent Resources

    • The Parent Technical Assistance Center Network provides a list of the Parent Training and Information Centers in each state. These centers are funded by the United States Department of Education to provide early intervention and special education information and training to parents of children with disabilities from birth to age 26. Click on the link to find the Parent Center in your state.
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Scientific Conferences (Found 2 resources)
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    • RDCRN 3rd Conference on Clinical Research for Rare Diseases, October 2, 2012
      Location: Hilton Washington DC/Rockville Hotel & Executive Meeting Center, Rockville, MD
      Description: Clinical research in rare diseases presents a number of challenges and unique issues that are not usually considered in the training of clinical investigators through existing training programs. Goals of the conference include: Direct instruction of trainees and new investigators in rare disease research methodology; Development of a reusable curriculum/syllabus on rare disease research methodology; Stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases
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Clinical Trials & Research (Found 2 resources)
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    • NIH Clinical Trials and You is a website developed by the National Institutes of Health (NIH) to help people learn more about clinical trials, why they matter, and how to participate.
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    • ResearchMatch is a free national research registry designed to bring together patients, healthy volunteers and researchers. Anyone from the United States can register with ResearchMatch, and a parent, legal guardian, or caretaker may register on behalf of a volunteer. Researchers from participating institutions use the ResearchMatch database to search for patients or healthy volunteers who meet the study criteria. Many studies are looking for healthy people of all ages, while some are looking for people with specific illnesses. ResearchMatch was developed by major academic institutions across the country and is funded by the National Center for Research Resources (NCRR), a center of the National Institutes of Health (NIH), the primary Federal agency for conducting and supporting medical research. Click on the link to learn more about ResearchMatch.

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