Best Vitelliform Macular Dystrophy (Best Disease)
A rare inherited retinal disease that primarily affects the macula, the central area of the retina responsible for detailed vision.
Understanding Best Vitelliform Macular Dystrophy (Best Disease)
Best Vitelliform Macular Dystrophy (Best Disease) is a rare inherited retinal disease that primarily affects the macula, the central area of the retina responsible for detailed vision.
The condition is characterised by the development of yellowish deposits of material beneath the retina, often described as having a “yolk-like” appearance during eye examination. Over time, these deposits can affect the function of retinal cells and may lead to changes in central vision.
Best Disease is caused by changes in a single gene, making it an important condition for understanding inherited retinal diseases and the relationship between genetic changes and retinal function.
The impact of Best Disease varies significantly between individuals. Some people maintain good vision throughout life, while others experience progressive central vision loss or complications affecting the macula.
Retina International works with people affected by Best Disease, patient organisations, researchers, clinicians, and partners worldwide to advance understanding of inherited retinal diseases, strengthen patient involvement, and support progress towards improved diagnosis, care, and treatment.
What is Best Vitelliform Macular Dystrophy?
Best Vitelliform Macular Dystrophy is an inherited retinal disease that affects the macula.
The macula is responsible for:
- Sharp central vision
- Reading
- Recognising faces
- Seeing fine details
- Colour perception
In Best Disease, abnormal deposits of a fatty substance called lipofuscin accumulate between the retinal pigment epithelium (RPE) and the retina. These deposits can interfere with normal retinal function.
BEST1 gene
Best Disease is most commonly linked to changes in BEST1
Onset
Onset can range from childhood/adolescence to adulthood
Reading, faces & fine detail
Key vision areas affected
How Best Disease can affect vision
Reduced central vision
Damage to the macula may cause difficulty with detailed vision tasks such as reading or recognising faces.
Blurred or distorted vision
Objects may appear unclear or distorted, particularly when looking directly at them.
Metamorphopsia
Straight lines may appear bent or wavy due to changes affecting the macula.
Blind spots in central vision
Some people develop areas of reduced or missing vision in the centre of their visual field.
Reduced visual acuity
As the disease progresses, sharpness of vision may decline.
Complications affecting the macula
Some individuals may develop complications such as:
- Choroidal neovascularisation (abnormal blood vessel growth beneath the retina)
- Macular scarring
- Fluid accumulation affecting the macula
Peripheral vision is usually preserved.
Identifying Best Disease
Eye examination
An ophthalmologist examines the retina and may identify characteristic vitelliform deposits.
Retinal imaging
Including:
Fundus photography
Provides images of retinal changes and characteristic deposits.
Optical coherence tomography (OCT)
Provides detailed cross-sectional images of retinal layers and helps monitor disease progression.
Fundus autofluorescence (FAF)
Helps identify areas of lipofuscin accumulation within retinal cells.
Electro-oculography (EOG)
EOG measures the function of the retinal pigment epithelium and can provide important information in Best Disease.
Genetic testing
Testing for changes in the BEST1 gene can confirm diagnosis.
A genetic diagnosis can support:
- Accurate classification of the condition
- Family counselling
- Research participation
- Understanding future treatment opportunities
Supporting vision and managing complications
Regular monitoring
Routine eye examinations help track changes in the retina and identify complications.
Low vision support
People experiencing vision loss may benefit from:
- Magnification devices
- Assistive technology
- Accessibility tools
- Vision rehabilitation services
Managing complications
Some complications may be treated with specific therapies.
For example:
- Abnormal blood vessel growth beneath the retina may be treated with anti-VEGF therapies.
Treatment decisions depend on the individual’s symptoms and clinical findings.
Genetic counselling
Genetic counselling can help individuals and families understand:
- Inheritance patterns
- Family risks
- Testing options
Emerging therapies
Research continues into approaches that may address the underlying genetic cause or protect retinal cells.
Adapting to changes in central vision
The impact of Best Disease can vary greatly. Some individuals experience minimal visual challenges, while others may need additional support as central vision changes.
Support may include:
- Low vision rehabilitation
- Accessible technology
- Workplace and educational adaptations
- Regular eye care
- Patient communities
People living with Best Disease may face challenges related to:
- Reading
- Recognising faces
- Performing detailed tasks
- Understanding future vision changes
Access to reliable information and connection with others can help individuals and families make informed decisions.
The experiences of people affected by Best Disease are important in shaping research priorities and improving patient-centred care.
Advancing the future of Best Disease treatment
Understanding disease mechanisms: Researchers continue to study how BEST1 gene changes affect retinal cells and contribute to disease progression.
Gene-based therapies
Because Best Disease is associated with a specific gene, researchers are exploring approaches that may target the underlying genetic cause.
Learn About Gene TherapyRetinal imaging and biomarkers
Advanced imaging techniques are helping researchers:
- Monitor disease progression
- Understand retinal changes
- Measure responses to potential treatments
Natural history studies and registries
Long-term studies help researchers understand how Best Disease develops and identify meaningful outcomes for clinical trials.
Learn About Natural History StudiesClinical trials
Research studies are exploring potential treatments and approaches to preserve retinal function.
Learn About Clinical TrialsInformation and community support
Take the Next Step
Best Vitelliform Macular Dystrophy highlights the importance of genetic understanding, early diagnosis, and patient-centred research in advancing the future of retinal health.
Through collaboration between people affected by Best Disease, researchers, clinicians, and organisations worldwide, progress continues towards improved support, better understanding, and new treatment possibilities.
