Pattern dystrophy

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ORPHA:63454
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19Specialists8Treatment centers

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UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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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

Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

Age of Onset

Adult

Begins in adulthood (age 18 or older)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Pattern dystrophy.

View clinical trials →

No actively recruiting trials found for Pattern dystrophy at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Pattern dystrophy community →

Specialists

19 foundView all specialists →
RR
Rainer Rodriguez
WINSTON SALEM, NC
Specialist
1 Pattern dystrophy publication
DB
David J Browning
Specialist
1 Pattern dystrophy publication
DU
D Uçar
Specialist
1 Pattern dystrophy publication
OK
O Kılıçarslan
Specialist
1 Pattern dystrophy publication
A&
A Yılmaz Çebi
Specialist
1 Pattern dystrophy publication
AS
Andrea Sodi
Specialist
1 Pattern dystrophy publication
DM
Dario Pasquale Mucciolo
Specialist
1 Pattern dystrophy publication
DG
Dario Giorgio
Specialist
1 Pattern dystrophy publication
IP
Ilaria Passerini
Specialist
1 Pattern dystrophy publication
BP
Bianca Pacini
Specialist
1 Pattern dystrophy publication
MB
Mario Bruschi
Specialist
1 Pattern dystrophy publication
TV
Tommaso Verdina
Specialist
1 Pattern dystrophy publication
GV
Gianni Virgili
Specialist
1 Pattern dystrophy publication
FG
Fabrizio Giansanti
Specialist
1 Pattern dystrophy publication
VM
Vittoria Murro
Specialist
1 Pattern dystrophy publication
QN
Quan Nguyen
Specialist
PI on 1 active trial38 Pattern dystrophy publications
RI
Raymond Iezzi
ROCHESTER, MN
Specialist
PI on 1 active trial2 Pattern dystrophy publications
GP
Güllü Aydın Yağcıoğlu, PhD
Specialist
PI on 4 active trials
MP
Maurizio B Parodi
Specialist
PI on 1 active trial

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Pattern dystrophy.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Pattern dystrophy

No recent news articles for 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.