What Is Doyne Honeycomb Retinal Dystrophy?
Source: Genetic and Rare Diseases (GARD) Information Center
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Doyne Honeycomb Retinal Dystrophy
DHRD; Doyne Honeycomb Degeneration of Retina; DHD; Malattia Leventinese; Familial Dominant Drusen
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).
Doyne Honeycomb Retinal Dystrophy
Image by Austin Rohl
Doyne Honeycomb Retinal Dystrophy
Image by Austin Rohl
Source: Genetic and Rare Diseases (GARD) Information Center
Normal vision / A scene as it might be viewed by a person with age-related macular degeneration.
1) Normal Eye 2) Age-Related Macular degeneration
Interactive by National Eye Institute, National Institutes of Health
Normal vision / A scene as it might be viewed by a person with age-related macular degeneration.
Source: Genetic and Rare Diseases (GARD) Information Center
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Doyne Honeycomb Retinal Dystrophy
Image by Austin Rohl
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).
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.
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. 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.
Source: Genetic and Rare Diseases (GARD) Information Center
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