Best Disease (Vitelliform Macular Dystrophy)

Published on May 26th, 2026

Best Disease (Vitelliform Macular Dystrophy) is a rare inherited eye disorder, most commonly caused by mutations in the BEST1 gene. The early signs of Best Disease include blurred vision, distorted vision, reading difficulty, and central vision changes. Best Disease is diagnosed by retinal imaging, eye tests, and genetic testing. Prescription glasses can improve vision in Best Disease by helping maximize remaining visual clarity.

It is important to note that Oscar Wylee offers optometry services only; this article is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

What is Best Disease (Vitelliform Macular Dystrophy)?

Best Disease (Vitelliform Macular Dystrophy) is a rare autosomal dominant eye disorder affecting the macula, according to ophthalmologists Dr. Koushik Tripathy and Dr. Baby Salini's research paper titled 'Best Disease', published in 2023. Best disease causes the buildup of a fatty yellow pigment called lipofuscin in the macula, which gradually affects central vision, according to the Macular Disease Foundation Australia.

How Does Best Disease Affect the Macula?

Best Disease causes the buildup of a fatty yellow pigment called lipofuscin in the macula area, which forms a lesion. Over time, the accumulation of lipofuscin can damage the light sensitive cells necessary for clear central vision, according to the Macular Disease Foundation Australia.

Is Best Disease a Rare Genetic Eye Disease?

Yes, Best Disease is considered a rare genetic eye disease, according to the Foundation for Fighting Blindness USA. Best Disease is linked to inherited gene mutations.

What Causes Vitelliform Macular Dystrophy?

Vitelliform Macular Dystrophy is primarily caused by genetic mutations that lead to the buildup of lipofuscin in the macula, according to the Macular Disease Foundation Australia. Best Disease is most commonly caused by the BEST1 gene, inherited in an autosomal dominant pattern.

How does the BEST1 Gene Damage the Retina?

Mutations in the BEST1 gene damage the retina by causing a defect in the Retinal Pigment Epithelium (RPE), which is the crucial support layer under the photoreceptors. Mutations in the BEST1 gene disrupt fluid and ion balance in retinal cells, according to Yan Wang, Sihua Cheng, Yu Zhang, and Tingting Yang's research paper titled 'From BEST1 mutations to retinal regeneration: integrating stem cell–derived RPE models and gene correction strategies', in the Frontiers in Cell and Developmental Biology Journal. This imbalance in retinal cells leads to abnormal material buildup beneath the retina, resulting in macular damage.

Is Best Disease Passed Down in Families?

Yes, Best Disease may be passed down in families, as it is an inherited genetic condition, according to the Foundation for Fighting Blindness USA. Best Disease follows an autosomal dominant pattern, meaning a child has a 50% chance of inheriting the mutated gene from their affected parent, according to the Foundation for Fighting Blindness USA.

What are the Early Signs of Best Disease Eye Problems?

The early signs of Best Disease eye problems depend on its unique presentation, and symptoms may vary from asymptomatic to severe visual impairment. Some early signs of Best Disease eye problems are blurred vision, distorted vision, reading difficulty, and central vision changes. These early signs of Best Disease eye problems are explained below.

Blurred vision: Blurred vision is an early sign of Best Disease, involving blurred or smudged central vision.
Distorted vision: Distorted vision involves the distortion of straight lines in central vision.
Reading difficulty: Reading difficulty refers to patients' finding reading text more difficult than before, whether it's on a screen or paper.
Central vision changes: Central vision changes are a main impact of Best Disease, with patients experiencing problems with their 'straight ahead' vision.

1. Blurred Vision

Blurred vision involves difficulty seeing clearly, including a blurry patch or smudge in central vision. Blurred vision usually targets the centre of vision, leaving peripheral vision intact, according to the Foundation for Fighting Blindness USA.

2. Distorted Vision

Distorted vision, or metamorphopsia, refers to straight lines appearing wavy, bent, or distorted for patients, according to Retina International.

3. Reading Difficulty

Difficulty reading, such as while reading small print, is an early symptom of Best Disease. Reading difficulty can involve smudged words or missing letters, and is often the first functional challenge of Best Disease that patients notice.

4. Central Vision Changes

Central vision changes involve sometimes subtle changes to the patient's central vision, according to the Foundation for Fighting Blindness USA. Central vision changes include loss of central sharpness, central blind spots (scotomas), and problems with contrast.

Graphic showing early signs of Best Disease

When Should You See an Eye Doctor for Central Vision Changes?

It is important to see an eye doctor when central vision becomes blurry or distorted. Any sudden drop in vision or rapid increase in line distortion can indicate a serious retinal complication. Sudden worsening of central vision or distortion may indicate retinal complications and should be assessed urgently by an eye care professional.

How is Best Disease Diagnosed?

Best Disease is diagnosed through retinal imaging, eye tests, and genetic testing. Optometrists can perform a dilated fundus examination and an optical coherence tomography to examine the retina. Following this, your optometrist may refer you to an ophthalmologist for further specialised testing, such as an electro-oculography (EOG) to measure the electrical potential of the retina. In some cases, a fluorescein angiography may be required to photograph blood circulation in the retina, according to the Foundation for Fighting Blindness USA. Genetic testing can detect specific mutations in the BEST1 gene, which is the most conclusive test for diagnosing Best Disease.

Image of a patient receiving a dilated pupil exam

What does OCT Show in Vitelliform Macular Dystrophy?

Optical coherence tomography (OCT) can identify abnormal deposits in the retina, as well as retinal layer abnormalities in the macula, according to ophthalmologist Alba Gómez-Benlloch et al.'s research paper titled 'Optical Coherence Tomography in Inherited Macular Dystrophies: A Review', published in 2024.

Can OCT Detect Changes Before Symptoms Appear?

Yes, optical coherence tomography (OCT) can detect retinal structural changes early, before symptoms appear. Early imaging is important as it helps monitor disease progression. Regular eye tests are also vital to look after your eye health.

How does Best Disease Affect Daily Activities?

Best Disease primarily impacts central vision, meaning any tasks requiring fine details can be affected. These activities include reading, driving, screen use, and recognising faces. The impact on daily life will vary depending on disease progression on an individual basis.

How can Prescription Glasses Help Improve Vision in Best Disease?

Prescription glasses can help maximise remaining visual clarity, improve focus, and reduce eye strain in patients with Best Disease. Prescription glasses can support daily visual tasks, but they cannot stop disease progression.

Image of a model wearing prescription OW glasses

How is Best Disease (Vitelliform Macular Dystrophy) Managed?

Best Disease (Vitelliform Macular Dystrophy) management focuses on monitoring vision and supporting visual function. Regular eye tests are crucial in monitoring disease progression. Vision support includes corrective lenses, low vision services, and UV protection. It can also be helpful for family members to undergo genetic testing to evaluate carriers, according to ophthalmologists Dr. Koushik Tripathy and Dr. Baby Salini's research paper titled 'Best Disease', published in 2023.

What Treatments are Available for Best Disease Eye Condition?

The treatments available for Best Disease include routine monitoring, corrective lenses, and low-vision aids. There is no cure for Best Disease, and treatments aim to preserve vision and reduce complications. Routine monitoring involves regular eye tests, as well as living a healthy lifestyle to support your overall health. Corrective lenses are often used by Best Disease patients as they are commonly farsighted. Low-vision devices may also be necessary for patients with advanced central vision loss, including devices such as hand-held magnifiers and bioptic lenses.

Is There a Cure for Best Disease?

There is currently no cure for Best Disease, according to the Macular Disease Society, Australia. However, there are ongoing clinical trials researching gene therapies that aim to halt or reverse the disease.