What are the other Names for this Condition? (Also known as/Synonyms)

• DHD
• DHRD (Doyne Honeycomb Degeneration of Retina)
• Doyne Honeycomb Degeneration of Retina (DHRD)

What is Doyne Honeycomb Retinal Dystrophy? (Definition/Background Information)

• Doyne Honeycomb Retinal Dystrophy (DHRD) is a condition that affects the eyes and causes vision loss
• The disorder 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

(Source: Doyne Honeycomb Retinal Dystrophy; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Doyne Honeycomb Retinal Dystrophy? (Age and Sex Distribution)

• Doyne Honeycomb Retinal Dystrophy is a rare congenital disorder. The presentation of symptoms begin in adults during young-to-middle adulthood stage
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Doyne Honeycomb Retinal Dystrophy? (Predisposing Factors)

• A positive family history may be an important risk factor, since Doyne Honeycomb Retinal Dystrophy is an inherited disorder

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Doyne Honeycomb Retinal Dystrophy? (Etiology)

• Doyne Honeycomb Retinal Dystrophy is usually caused by mutations in the EFEMP1 gene and is inherited in an autosomal dominant manner

(Source: Doyne Honeycomb Retinal Dystrophy; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

What are the Signs and Symptoms of Doyne Honeycomb Retinal Dystrophy?

The signs and symptoms of Doyne Honeycomb Retinal Dystrophy vary, but may include:

• Reticular pigmentary degeneration
• Retinal dystrophy
• Visual impairment

(Source: Doyne Honeycomb Retinal Dystrophy; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Doyne Honeycomb Retinal Dystrophy Diagnosed?

Doyne Honeycomb Retinal Dystrophy is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Doyne Honeycomb Retinal Dystrophy?

The complications of Doyne Honeycomb Retinal Dystrophy may include:

• Loss of vision
• Reduced quality of life

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Doyne Honeycomb Retinal Dystrophy Treated?

There is no cure for Doyne Honeycomb Retinal Dystrophy, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complication that develops, and may include the following:

• Vision rehabilitation, which involves the use of low vision aids, orientation, and mobility training
• Choroidal neovascularization (CNV), the growth of new blood vessels in the choroid (in people with DHRD and has a poor visual prognosis) with intravitreal bevacizumab
• Photodynamic therapy using verteporfin

(Source: Doyne Honeycomb Retinal Dystrophy; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How can Doyne Honeycomb Retinal Dystrophy be Prevented?

• Currently, Doyne Honeycomb Retinal Dystrophy may not be preventable, since it is a genetic disorder
• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Doyne Honeycomb Retinal Dystrophy? (Outcomes/Resolutions) 

• The prognosis of Doyne Honeycomb Retinal Dystrophy is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Doyne Honeycomb Retinal Dystrophy:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/