National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Doyne honeycomb retinal dystrophy


Other Names:
DHRD; Doyne honeycomb degeneration of retina; DHD
Categories:
Doyne honeycomb retinal dystrophy (DHRD) is a condition that affects the eyes and causes vision loss. It is characterized by small, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium (the pigmented layer of the retina). Over time, drusen may grow and come together, creating a honeycomb pattern. It usually begins in early to mid adulthood, but the age of onset varies. The degree of vision loss also varies. DHRD is usually caused by mutations in the EFEMP1 gene and is inherited in an autosomal dominant manner.[1][2][3]
Last updated: 10/20/2014

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Reticular pigmentary degeneration 0007937
Retinal dystrophy
Breakdown of light-sensitive cells in back of eye
0000556
Visual impairment
Impaired vision
Loss of eyesight
Poor vision
[ more ] 		0000505
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Last updated: 7/1/2020
Doyne honeycomb retinal dystrophy (DHRD) is inherited in an autosomal dominant manner.[2] This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause signs and symptoms of the condition.  When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated gene from the affected parent. Children who do not inherit the mutated gene will not develop or pass on the disease.
Last updated: 10/22/2014

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • 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.
There is currently no cure for Doyne honeycomb retinal dystrophy (DHRD) and treatment options are limited. Management of hereditary retinal dystrophies generally focuses on vision rehabilitation, which involves the use of low vision aids, orientation, and mobility training. The goal of visual rehabilitation is to reach maximum function, a sense of well being, a personally satisfying level of independence, and optimum quality of life.[4][5]

Choroidal neovascularization (CNV), the growth of new blood vessels in the choroid, can develop in people with DHRD and has a poor visual prognosis. The authors of a 2011 study reported that 2 people with DHRD and CNV were treated with a course of intravitreal bevacizumab (injected into the eye). This treatment stopped fluid leakage and led to increased visual acuity. They proposed that recovery of visual acuity after treatment of CNV in these cases shows that the loss of retinal function may be reversible. However, this finding needs to be confirmed in more studies with a larger number of participants.[6]

There was also a case report of a person with malattia leventinese (a condition very similar to DHRD and sometimes considered the same) who was treated successfully with photodynamic therapy using verteporfin. The treatment reportedly prevented severe visual loss in the patient. The authors of this case report proposed that photodynamic therapy be considered as a possible treatment in patients with malattia leventinese or DHRD who develop CNV.[7]
 
You may consider participating in a clinical trial for treatment of retinal dystrophy. The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. 

There are many clinical trials currently enrolling individuals with hereditary retinal dystrophy. View a list of these studies here. After you click on a study, review its eligibility criteria to determine its appropriateness. We suggest reviewing the list of studies with your physician. Use the study’s contact information to learn more. You can check this site often for regular updates. Use "retinal dystrophy" or "Doyne honeycomb retinal dystrophy" as your search term.
Last updated: 7/25/2014

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a 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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • My 74 year old mother and I have lived with DHRD for years. My mother is legally blind and I am now losing my night vision, color vision, etc. Today my 17 year old son was diagnosed with DHRD in the early stages. Is there anything he can do to help slow the process down? Wear sunglasses, take omega 3 vitamins, anything? How common is it for males to be diagnosed with DHRD? What is the best way to find a doctor who specializes in DHRD? See answer

  • When diagnosed with this disorder, how quickly might vision loss occur? Are there treatments or preventions? How can I keep my eyesight so I can care for my young children? See answer

  • How rare is this disease? How many Americans are diagnosed with it? See answer


  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.
  4. Patient.co.uk. Hereditary Retinal Dystrophies. Last reviewed: 05/23/2011; http://www.patient.co.uk/doctor/Hereditary-Retinal-Dystrophies.htm. Accessed 7/25/2014.
  5. American Optometric Association. Definition of Vision Rehabilitation. 06/2004; http://www.aoa.org/optometrists/membership/aoa-sections/vision-rehabilitation-section/membership-benefits/definition-of-vision-rehabilitation?sso=y. Accessed 7/25/2014.
  6. Sohn EH, Patel PJ, MacLaren RE, Adatia FA, Pal B, Webster AR, Tufail A. Responsiveness of choroidal neovascular membranes in patients with R345W mutation in fibulin 3 (Doyne honeycomb retinal dystrophy) to anti-vascular endothelial growth factor therapy. Arch Ophthalmol. December, 2011; 129(12):1626-1628. Accessed 10/22/2014.
  7. Dantas MA, Slakter JS, Negrao S et al. Photodynamic therapy with verteporfin in mallatia leventinese. Ophthalmology. February, 2002; 109(2):296-301. http://www.ncbi.nlm.nih.gov/pubmed/11825812. Accessed 7/25/2014.