Doyne honeycomb retinal dystrophy

DHRD 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. At this point, patients may start to notice changes in their visual acuity (the clarity or sharpness of vision).  

Typically, people with DHRD do not have symptoms until 30-40 years of age. Early visual symptoms may include: decreased visual acuity; problems seeing color; relative scotomas (a defect in the visual field resulting in problems seeing objects of low brightness); photophobia (eye discomfort in bright light); and metamorphopsia (distorted vision). [1]

In the later stages of the condition, usually by the age of 40 to 50 years, one's central vision deteriorates. Additionally, absolute scotomas can develop. These visual defects (which are surrounded by normal visual field) are associated with total loss of vision within that specific area. [1]

DHRD is usually characterized by slowly progressive loss of central visual acuity. To some extent, the degree of severity is associated with age. Mild cases are usually detected between 20 to 40 years of age. They are characterized by normal vision and the presence of small, discrete drusen in the macula. More severe cases generally occur at or after 50 years of age and are associated with profound loss of visual acuity. 

However, the severity of symptoms in DHRD can be variable. There are always exceptions to the "typical" age of onset and course of DHRD. For example, there have been reports of people with DHRD in their sixties who still have good vision. [1]  In other affected people, their disease course may change to one of faster progression and severe visual loss if choroidal neovascularization (CNV) occurs. CNV involves the growth of new blood vessels from the choroid into the subretinal space, and is a major cause of visual loss. [2] [3]

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.^[1][2]

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.^[3]

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.^[4]
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.