Overview
Cystoid macular dystrophy is a rare inherited eye condition that affects the macula — the small, central part of the retina at the back of your eye that is responsible for sharp, detailed vision. In this condition, tiny fluid-filled pockets (called cysts) form in the layers of the macula, causing it to swell and become damaged over time. This swelling disrupts the normal structure of the retina and gradually reduces the ability to see fine details. The main symptoms include blurry or distorted central vision, difficulty reading or recognizing faces, and reduced color perception. Side (peripheral) vision is usually preserved, which means most people do not go completely blind. Symptoms often begin in childhood or early adulthood and tend to worsen slowly over the years. Currently, there is no cure for cystoid macular dystrophy. Treatment focuses on managing symptoms and slowing progression where possible. Low vision aids, magnifying devices, and vision rehabilitation services can help people maintain independence and quality of life. Genetic counseling is strongly recommended for affected individuals and their families, as this condition can be passed down through generations.
Key symptoms:
Blurry central visionDistorted or wavy appearance of straight linesDifficulty reading small printTrouble recognizing facesReduced ability to see fine detailsDecreased color visionSensitivity to bright lightA dark or blurry spot in the center of visionDifficulty with tasks requiring sharp vision, like driving or sewingGradual worsening of vision over time
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
6 eventsShanghai Eye Disease Prevention and Treatment Center — NA
Quan Dong Nguyen — PHASE2
Oslo University Hospital — PHASE4
Affiliated Hospital of Nantong University — PHASE3
Massachusetts Eye and Ear Infirmary — PHASE1, PHASE2
Vance Thompson Vision - MT — PHASE4
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
2 availableEylea
indicated for the treatment of patients with Diabetic Macular Edema (DME)
Krintafel
KRINTAFEL is indicated for the radical cure (prevention of relapse) of Plasmodium vivax malaria in patients aged 16 years and older who are receiving chloroquine therapy for acute P. vivax infection
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 Cystoid macular dystrophy.
Community
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Start the conversation →Latest news about Cystoid macular dystrophy
Disease timeline:
New recruiting trial: Therapeutic Contact Lens Drug Delivery System (TCL-DDS) in Patients With Recurrent Cystoid Macular Edema
A new clinical trial is recruiting patients for Cystoid macular dystrophy
New recruiting trial: DSAEK/DMEK and Cystoid Macular Edema - the Role for Topical NSAIDs (Nepafenac) (DMEC)
A new clinical trial is recruiting patients for Cystoid macular dystrophy
New recruiting trial: The PRIME Study: A Randomized, Controlled, Prospective Study
A new clinical trial is recruiting patients for Cystoid macular dystrophy
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 gene is causing my condition, and what does that mean for how my vision will change over time?,How often should I have my eyes checked, and what tests will be done at each visit?,Are there any treatments or clinical trials I should know about?,What low vision services or rehabilitation programs do you recommend?,What are the chances that my children or siblings could be affected?,Are there any lifestyle changes or things I should avoid to protect my remaining vision?,When should I seek emergency care for my eyes, and what symptoms should I watch for?
Common questions about Cystoid macular dystrophy
What is Cystoid macular dystrophy?
Cystoid macular dystrophy is a rare inherited eye condition that affects the macula — the small, central part of the retina at the back of your eye that is responsible for sharp, detailed vision. In this condition, tiny fluid-filled pockets (called cysts) form in the layers of the macula, causing it to swell and become damaged over time. This swelling disrupts the normal structure of the retina and gradually reduces the ability to see fine details. The main symptoms include blurry or distorted central vision, difficulty reading or recognizing faces, and reduced color perception. Side (periphe
Are there clinical trials for Cystoid macular dystrophy?
Yes — 1 recruiting clinical trial is currently listed for Cystoid macular dystrophy on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Cystoid macular dystrophy?
25 specialists and care centers treating Cystoid macular dystrophy are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.