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PubMed This is a summary of 46 peer-reviewed journal articles Updated
Ophthalmology

Best Vitelliform Macular Dystrophy (BVMD) Patient Guide

At a Glance

Best Vitelliform Macular Dystrophy (BVMD), or Best Disease, is a genetic condition causing slow central vision loss. Driven by BEST1 gene mutations, it progresses through five stages, though many people maintain functional vision for decades with proper monitoring and care.

Welcome to the Best Vitelliform Macular Dystrophy (BVMD) resource guide. Hearing that you have a genetic condition affecting your central vision can be overwhelming. However, BVMD—often called Best Disease—is typically characterized by a very slow progression [1]. Many people maintain useful, functional vision for decades [2].

This guide is designed to empower you with evidence-based information so you can understand your diagnosis, navigate the medical system, and advocate for yourself. You can explore the following sections:

01

Validation & Orientation: Understanding BVMD

Learn the basics of Best Vitelliform Macular Dystrophy (BVMD). Understand BEST1 gene mutations, the yolk-like macula buildup, and your long-term prognosis.

02

The Journey of Your Vision: The 5 Stages of BVMD

Learn about the 5 stages of Best Vitelliform Macular Dystrophy (BVMD). Understand how each stage affects your vision, key biomarkers, and long-term outlook.

03

The Diagnostic Roadmap: EOG, Imaging, and Genetics

Learn how Best vitelliform macular dystrophy (BVMD) is diagnosed. Understand key tests like EOG, OCT, and FAF, and why BEST1 genetic testing is essential.

04

Managing Your Vision: Monitoring and Complication Care

Learn how to monitor your vision with Best Vitelliform Macular Dystrophy (BVMD). Understand CNV symptoms, Amsler grid use, and anti-VEGF injection treatments.

05

The Horizon of Hope: Gene Therapy and Future Research

Explore the future of Best Vitelliform Macular Dystrophy (BVMD) treatment. Learn about BEST1 gene therapy, clinical trials, and joining research registries.

Remember, every person’s journey with Best Disease is unique [3]. Use these resources to prepare for productive conversations with your retinal specialist.

Common questions in this guide

What is Best Vitelliform Macular Dystrophy (Best Disease)?
Best Disease is a genetic condition that affects the macula, leading to slow changes in central vision. It is characterized by a buildup of material that often looks like an egg yolk during eye exams, but progression is typically very slow and many maintain useful vision for decades.
How is Best Disease diagnosed?
Doctors diagnose Best Disease using specialized eye imaging and function tests, including Optical Coherence Tomography (OCT) and an Electro-oculogram (EOG). Genetic testing for the BEST1 gene is also used to confirm the diagnosis.
What are the stages of Best Disease?
The condition progresses through five distinct stages, often beginning with an egg-yolk-like lesion in the eye. However, because the disease moves very slowly, you may not experience all five stages or significant vision loss in your lifetime.
How can I protect my vision if I have BVMD?
You can protect your vision by regularly monitoring for abnormal blood vessel growth using an Amsler grid at home. Wearing UV-blocking sunglasses and having regular exams with a retinal specialist are also highly recommended.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.How much experience do you have in treating and monitoring genetic macular dystrophies like BVMD?
  2. 2.Do you recommend any specific lifestyle adjustments or UV-blocking sunglasses for my eyes?
  3. 3.What is the best way to contact you if I notice a sudden change in my vision between appointments?

Questions For You

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References

References (3)
  1. 1

    Best Vitelliform Macular Dystrophy.

    Tsang SH, Sharma T

    Advances in experimental medicine and biology 2018; (1085()):79-90 doi:10.1007/978-3-319-95046-4_16.

    PMID: 30578489
  2. 2

    Optical Coherence Tomography Examination of the Retinal Pigment Epithelium in Best Vitelliform Macular Dystrophy.

    Qian CX, Charran D, Strong CR, et al.

    Ophthalmology 2017; (124(4)):456-463 doi:10.1016/j.ophtha.2016.11.022.

    PMID: 28187978
  3. 3

    Clinical and Mutation Analysis of Patients with Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy in Chinese Population.

    Gao T, Tian C, Hu Q, et al.

    BioMed research international 2018; (2018()):4582816 doi:10.1155/2018/4582816.

    PMID: 30498755

This guide provides educational information about Best Vitelliform Macular Dystrophy (BVMD). It is for informational purposes only and does not replace professional medical advice, diagnosis, or treatment from your retinal specialist.

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