ConditionEyes & vision
Pattern Dystrophy
Pattern dystrophy is a group of inherited eye conditions in which yellow, orange or gray pigment deposits form in a pattern in the macula, the central part of the retina used for detailed vision. It usually appears in midlife and often causes only mild symptoms, such as slight blurring or distortion, and many people keep good vision for decades. It is most often linked to changes in the PRPH2 gene. Its main risk is the development of abnormal blood vessels (choroidal neovascularization), which can be treated with eye injections.
Also called: Pattern dystrophy of the retinal pigment epithelium, macular pattern dystrophy, butterfly-shaped pigment dystrophy, adult-onset foveomacular vitelliform dystrophy
At a glance
- What it is
- Inherited macular conditions with patterned pigment deposits under the retina.
- Onset
- Usually between 30 and 50.
- Genetics
- Most often PRPH2 gene variants, usually autosomal dominant. Variable within families.
- Symptoms
- Often mild: slight blurring, distortion, difficulty reading. Many have no symptoms.
- Treatment
- Monitoring. Anti-VEGF injections if abnormal blood vessels (choroidal neovascularization) develop.
When to get help
See a doctor within a day or two
- Sudden distortion of straight lines, a new dark or blank spot in central vision, or sudden blurring in one eye (possible abnormal vessel growth or bleeding)
Book a routine appointment
- Gradual blurring of central vision or difficulty reading
- Family members with pattern dystrophy or macular disease: consider an eye exam
- Regular monitoring visits with your eye specialist
Usually safe to manage at home
- Checking each eye weekly with an Amsler grid or straight lines, and reporting changes
What happens in pattern dystrophy
The retinal pigment epithelium (RPE) is a layer of cells that supports the light-sensing photoreceptors. In pattern dystrophy, waste material (lipofuscin) and pigment build up in the RPE in characteristic shapes. These deposits can slowly disturb the photoreceptors above them.
Types
| Type | Appearance |
|---|---|
| Adult-onset foveomacular vitelliform dystrophy | A round yellow spot at the center of the macula, about one-third the size of the optic disc |
| Butterfly-shaped pigment dystrophy | Pigment in a butterfly-wing shape |
| Reticular dystrophy | A net-like or fishnet pattern |
| Multifocal pattern dystrophy simulating fundus flavimaculatus | Scattered yellow flecks, can resemble Stargardt disease |
| Fundus pulverulentus | Fine, coarse pigment mottling |
Different patterns can occur in the same family and even in the two eyes of one person.
Causes
Most cases are caused by variants in the PRPH2 (peripherin 2) gene, which is important for photoreceptor structure. Other genes, including BEST1, IMPG1 and IMPG2, are involved in some vitelliform types. Some flecked forms can look like Stargardt disease, another inherited macular condition. Inheritance is usually autosomal dominant, but some people have no known family history because severity varies and symptoms can be mild.
Pattern dystrophy is sometimes associated with other conditions, such as myotonic dystrophy and pseudoxanthoma elasticum.
Symptoms
- mild blurring of central vision
- distortion, where straight lines look wavy (distorted vision)
- difficulty reading fine print
- slower adjustment to changes in light
- many people have no symptoms, and it is found on a routine eye exam
Pattern dystrophy vs age-related macular degeneration
| Feature | Pattern dystrophy | Age-related macular degeneration |
|---|---|---|
| Typical onset | 30s to 50s | Usually over 55 |
| Cause | Inherited gene variants | Age, genetics, smoking |
| Deposits | Patterned pigment | Drusen and pigment changes |
| Progression | Usually slow, often mild | Variable, can be severe |
| Complication | Choroidal neovascularization | Choroidal neovascularization (wet AMD), geographic atrophy |
Pattern dystrophy is sometimes misdiagnosed as AMD. Genetic testing and retinal imaging can help tell them apart.
Diagnosis
- dilated retinal examination shows the characteristic deposits
- fundus autofluorescence highlights the deposits clearly
- optical coherence tomography (OCT) shows the layers of the retina and checks for fluid
- fluorescein or OCT angiography checks for abnormal blood vessels
- electrophysiology tests (electrooculogram) in some cases
- genetic testing can confirm the gene involved and helps families
Treatment
There is no treatment that reverses the deposits. Management includes:
- regular monitoring with OCT imaging
- home monitoring with an Amsler grid to detect new distortion
- anti-VEGF injections (such as aflibercept, ranibizumab or bevacizumab) if choroidal neovascularization develops, which is the most treatable cause of sudden vision loss in this condition
- low vision aids if central vision is reduced
- not smoking and a diet rich in leafy greens, which support general macular health
The AREDS supplements were developed for AMD. Their benefit in pattern dystrophy has not been established.
Outlook
Most people with pattern dystrophy keep useful vision throughout life, often good enough to read and drive. Some slowly lose central vision in later life from atrophy of the RPE, and a minority develop choroidal neovascularization, which responds well to prompt treatment.
Frequently asked questions
What is pattern dystrophy?
Pattern dystrophy is a group of inherited conditions in which pigment deposits form in recognizable patterns in the macula, the central retina. It usually begins in midlife and often causes only mild vision changes.
Is pattern dystrophy the same as macular degeneration?
No. Pattern dystrophy is inherited and often starts earlier, between 30 and 50, with patterned deposits. Age-related macular degeneration usually starts after 55 and has different features. Both can develop abnormal blood vessels that need treatment.
Will I go blind from pattern dystrophy?
Total blindness is very unlikely, because pattern dystrophy affects central vision and not side vision. Most people keep useful vision. Some lose detailed central vision later in life, and abnormal vessel growth can be treated with injections.
Is pattern dystrophy hereditary?
Yes. It is usually inherited in an autosomal dominant pattern, most commonly from PRPH2 gene variants. Severity varies widely, so relatives may have very mild or no symptoms. Family members may benefit from an eye exam.
How is pattern dystrophy treated?
There is no cure, but regular monitoring catches complications early. If abnormal blood vessels (choroidal neovascularization) develop, anti-VEGF eye injections are effective. Low vision aids help if central vision declines.
Sources
This guide was written from current patient and clinical guidance, including:
- American Academy of Ophthalmology (AAO) EyeWiki: Pattern dystrophies
- National Eye Institute (NEI): Inherited retinal diseases
- Foundation Fighting Blindness: Pattern dystrophy
- MedlinePlus Genetics: PRPH2 gene
- Moorfields Eye Hospital: Pattern dystrophy patient information