Overview
Best vitelliform macular dystrophy, also known as Best disease or Best macular dystrophy, is an inherited eye condition that affects the macula — the central part of the retina responsible for sharp, detailed vision. The disease is caused by changes (mutations) in the BEST1 gene, which provides instructions for making a protein important for the health of the retinal pigment epithelium, a layer of cells that supports the light-sensing cells in the eye. The hallmark of Best disease is the formation of a yellow, egg-yolk-like deposit (called a vitelliform lesion) beneath the macula. This deposit is made up of a fatty substance called lipofuscin. Over time, this deposit can break down and cause scarring, leading to progressive loss of central vision. Peripheral (side) vision is usually preserved. The condition typically begins in childhood, though some people may not notice symptoms until later in life. Vision loss varies widely — some individuals maintain good vision for many years, while others experience more significant decline. There is currently no cure or specific treatment that can stop or reverse Best disease. Management focuses on monitoring vision changes, using low-vision aids when needed, and in some cases treating complications such as abnormal blood vessel growth (choroidal neovascularization) with anti-VEGF injections. Regular eye exams with a retinal specialist are essential for tracking the disease and catching treatable complications early.
Also known as:
Key symptoms:
Blurred central visionDistorted vision (straight lines appear wavy)Difficulty reading or recognizing facesA yellow egg-yolk-like spot on the retina seen during eye examsGradual loss of central vision over yearsDifficulty seeing fine detailsReduced ability to see in dim lightingA dark or blank spot in the center of visionPreserved side (peripheral) visionVision that may differ between the two eyes
Clinical phenotype terms (6)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Childhood
Begins in childhood, roughly ages 1 to 12
FDA & Trial Timeline
10 eventsCentre Hospitalier Universitaire de la Réunion — NA
Canadian Cancer Trials Group — PHASE3
Hackensack Meridian Health — NA
Aurion Biotech — PHASE3
Shanghai Miracogen Inc. — PHASE3
Hospital Israelita Albert Einstein — PHASE2
AugMend Health Inc. — NA
Opus Genetics, Inc — PHASE1, PHASE2
Gustave Roussy, Cancer Campus, Grand Paris — PHASE2
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Best vitelliform macular dystrophy.
3 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
Rare Disease Specialist
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 Best vitelliform macular dystrophy.
Community
No community posts yet. Be the first to share your experience with Best vitelliform macular dystrophy.
Start the conversation →Latest news about Best vitelliform macular dystrophy
Disease timeline:
New recruiting trial: Medical Decision Making in Multiple System Atrophy
A new clinical trial is recruiting patients for Best vitelliform macular dystrophy
New recruiting trial: Thrombectomy Versus Best Medical Management in Large Vessel Occlusion Stroke Patients Presenting Beyond 24 Hours and With Presence of Collateral Flow on CT Angiography
A new clinical trial is recruiting patients for Best vitelliform macular dystrophy
New recruiting trial: AURN001 Efficacy in Participants With Corneal Edema Secondary to Corneal Endothelial Dysfunction
A new clinical trial is recruiting patients for Best vitelliform macular dystrophy
New recruiting trial: OCT Guided Magmaris RMS in STEMI
A new clinical trial is recruiting patients for Best vitelliform macular dystrophy
New recruiting trial: The INFLUENTIAL Trial- Evaluation of National Inpatient Influenza Vaccination Program
A new clinical trial is recruiting patients for Best vitelliform macular dystrophy
New recruiting trial: ABSK-011+BSC vs. Placebo+BSC in Previously Treated Advanced HCC With FGF19 Overexpression
A new clinical trial is recruiting patients for Best vitelliform macular dystrophy
New recruiting trial: Contingency Management as an Adjunct Treatment for Rural and Remote Disordered Gamblers
A new clinical trial is recruiting patients for Best vitelliform macular dystrophy
New recruiting trial: Preoperative Optimisation of Modifiable Risk Factors in Surgery of the Pancreas
A new clinical trial is recruiting patients for Best vitelliform macular dystrophy
New recruiting trial: A Feasibility Study Using CLINIMACS® for Alpha/Beta T-Cell Depletion in Stem Cell Transplant
A new clinical trial is recruiting patients for Best vitelliform macular dystrophy
New recruiting trial: A Study of Bomedemstat (IMG-7289/MK-3543) Compared to Best Available Therapy (BAT) in Participants With Essential Thrombocythemia and an Inadequate Response or Intolerance of Hydroxyurea (MK-3543-006)
A new clinical trial is recruiting patients for Best vitelliform 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.What stage is the disease in right now, and what changes should I watch for?,How often should I have retinal exams to monitor for complications?,What are the signs that I should seek urgent care for my eyes?,Are there any clinical trials or gene therapy studies I might be eligible for?,Should my family members be tested for the BEST1 gene mutation?,What low-vision aids or services can help me maintain my independence?,How will this condition affect my ability to drive or work over time?
Common questions about Best vitelliform macular dystrophy
What is Best vitelliform macular dystrophy?
Best vitelliform macular dystrophy, also known as Best disease or Best macular dystrophy, is an inherited eye condition that affects the macula — the central part of the retina responsible for sharp, detailed vision. The disease is caused by changes (mutations) in the BEST1 gene, which provides instructions for making a protein important for the health of the retinal pigment epithelium, a layer of cells that supports the light-sensing cells in the eye. The hallmark of Best disease is the formation of a yellow, egg-yolk-like deposit (called a vitelliform lesion) beneath the macula. This deposi
How is Best vitelliform macular dystrophy inherited?
Best vitelliform macular dystrophy follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Best vitelliform macular dystrophy typically begin?
Typical onset of Best vitelliform macular dystrophy is childhood. Age of onset can vary across affected individuals.
Are there clinical trials for Best vitelliform macular dystrophy?
Yes — 3 recruiting clinical trials are currently listed for Best vitelliform 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 Best vitelliform macular dystrophy?
25 specialists and care centers treating Best vitelliform macular dystrophy are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.