Overview
Pattern dystrophy is a group of inherited eye conditions that affect the macula — the small central part of the retina responsible for sharp, detailed vision. The retina is the light-sensitive layer at the back of the eye. In pattern dystrophy, abnormal pigment (a colored substance) builds up in the macula in distinctive shapes or patterns, which is how the condition gets its name. Common patterns seen by eye doctors include butterfly shapes, fishnet-like designs, and other geometric arrangements. Most people with pattern dystrophy notice gradual changes in their central vision, such as blurring, distortion, or difficulty reading fine print. Side (peripheral) vision is usually preserved. Symptoms often begin in middle age, though some people may not notice problems until later in life. The condition tends to progress slowly, and many people maintain useful vision for decades. There is currently no cure for pattern dystrophy, and no FDA-approved treatment specifically targets it. Management focuses on monitoring vision changes, using low vision aids, and protecting the eyes from further damage. Regular check-ups with a retinal specialist are important to track progression and rule out complications like abnormal blood vessel growth under the retina.
Also known as:
Key symptoms:
Blurry central visionDifficulty reading small printDistorted or wavy appearance of straight linesColors appearing less vivid or washed outA dark or blurry spot in the center of visionDifficulty recognizing facesTrouble seeing fine detailsGradual worsening of vision over timeAbnormal pigment deposits visible on eye exam
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Adult
Begins in adulthood (age 18 or older)
Treatments
No FDA-approved treatments are currently listed for Pattern dystrophy.
View clinical trials →Clinical Trials
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Pattern dystrophy.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which specific type of pattern dystrophy do I have, and which gene is involved?,How quickly is my condition likely to progress, and what signs should prompt me to call you urgently?,Should my children or siblings be tested for this condition?,Am I at risk for developing abnormal blood vessel growth, and how would we treat that if it happens?,What low vision aids or services would you recommend for me right now?,Are there any clinical trials I might be eligible for?,How often should I have eye exams, and what tests will be done at each visit?
Common questions about Pattern dystrophy
What is Pattern dystrophy?
Pattern dystrophy is a group of inherited eye conditions that affect the macula — the small central part of the retina responsible for sharp, detailed vision. The retina is the light-sensitive layer at the back of the eye. In pattern dystrophy, abnormal pigment (a colored substance) builds up in the macula in distinctive shapes or patterns, which is how the condition gets its name. Common patterns seen by eye doctors include butterfly shapes, fishnet-like designs, and other geometric arrangements. Most people with pattern dystrophy notice gradual changes in their central vision, such as blurr
How is Pattern dystrophy inherited?
Pattern dystrophy follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Pattern dystrophy typically begin?
Typical onset of Pattern dystrophy is adult. Age of onset can vary across affected individuals.
Which specialists treat Pattern dystrophy?
19 specialists and care centers treating Pattern dystrophy are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.