Adult-Onset Vitelliform Macular Dystrophy (AVMD) Overview

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Learn About Adult-Onset Vitelliform Macular Dystrophy (AVMD)

What is the definition of Adult-Onset Vitelliform Macular Dystrophy (AVMD)?
Adult-onset vitelliform macular dystrophy (AVMD) is an eye disorder that can cause progressive vision loss. AVMD affects an area of the retina called the macula, which is responsible for sharp central vision. The condition causes a fatty yellow pigment to accumulate in cells underlying the macula, eventually damaging the cells. Some people remain without symptoms throughout their life. Other people with AVMD may slowly develop blurred and/or distorted vision, that can progress to central vision loss over time. In the past, AVMD was believed to be mainly a genetic disorder caused by genetic changes in the PRPH2, BEST1, IMPG1, and IMPG2 genes; however, recent studies focused on genetic testing suggest that the genetic cause for most cases of AVMD has not been found. Sometimes AVMD clearly runs in families in an autosomal dominant manner, but the inheritance is suspected to be more complicated in the majority of cases.
What are the alternative names for Adult-Onset Vitelliform Macular Dystrophy (AVMD)?
  • Adult-onset vitelliform macular dystrophy
  • AVMD
  • Adult-onset foveomacular vitelliform dystrophy
  • Foveomacular dystrophy, adult-onset, with choroidal neovascularization
  • Foveomacular dystrophy, adult-onset; AOFMD
  • Macular dystrophy, vitelliform, adult-onset
  • Vitelliform macular dystrophy, adult-onset
Who are the top Adult-Onset Vitelliform Macular Dystrophy (AVMD) Local Doctors?
Giuseppe Querques
Elite in Adult-Onset Vitelliform Macular Dystrophy (AVMD)
Giuseppe Querques
Elite in Adult-Onset Vitelliform Macular Dystrophy (AVMD)
Giuseppe Querques

Centre Hospitalier Intercommunal Creteil University Paris Est

Creteil, FR 

Giuseppe Querques practices in Creteil, France. Mr. Querques is rated as an Elite expert by MediFind in the treatment of Adult-Onset Vitelliform Macular Dystrophy (AVMD). His top areas of expertise are Age-Related Macular Degeneration (ARMD), Late-Onset Retinal Degeneration, Geographic Atrophy, Vitrectomy, and Cataract Removal.

Lawrence A. Yannuzzi
Distinguished in Adult-Onset Vitelliform Macular Dystrophy (AVMD)
Dr. Lawrence A. Yannuzzi
Ophthalmology
Distinguished in Adult-Onset Vitelliform Macular Dystrophy (AVMD)
Dr. Lawrence A. Yannuzzi
Ophthalmology

Vitreous Retina Macula Consultants Of New York

950 3rd Ave, 3rd floor, 
New York, NY 
212-861-9797
Languages Spoken:
English
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Lawrence Yannuzzi is an Ophthalmologist in New York, New York. Dr. Yannuzzi is rated as a Distinguished provider by MediFind in the treatment of Adult-Onset Vitelliform Macular Dystrophy (AVMD). His top areas of expertise are Central Serous Chorioretinopathy, Late-Onset Retinal Degeneration, Age-Related Macular Degeneration (ARMD), Adult-Onset Vitelliform Macular Dystrophy (AVMD), and Vitrectomy.

 
 
 
 
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Elite in Adult-Onset Vitelliform Macular Dystrophy (AVMD)
Dr. Edwin M. Stone
Ophthalmology
Elite in Adult-Onset Vitelliform Macular Dystrophy (AVMD)
Dr. Edwin M. Stone
Ophthalmology

State University Of Iowa

200 Hawkins Dr, 
Iowa City, IA 
319-356-1616
Languages Spoken:
English
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Accepting New Patients

Edwin Stone is an Ophthalmologist in Iowa City, Iowa. Dr. Stone is rated as an Elite provider by MediFind in the treatment of Adult-Onset Vitelliform Macular Dystrophy (AVMD). His top areas of expertise are Late-Onset Retinal Degeneration, Adult-Onset Vitelliform Macular Dystrophy (AVMD), Retinitis Pigmentosa, Vitrectomy, and Cataract Removal. Dr. Stone is currently accepting new patients.

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What are the latest Adult-Onset Vitelliform Macular Dystrophy (AVMD) Clinical Trials?
Generation of Induced Pluripotent Stem (iPS) Cell Lines From Somatic Cells of Participants With Eye Diseases and From Somatic Cells of Matched Controls
Generation of Induced Pluripotent Stem (iPS) Cell Lines From Somatic Cells of Participants With Eye Diseases and From Somatic Cells of Matched Controls
Enrollment Status: Recruiting
Publish Date: October 07, 2025

Background: \- Best Vitelliform Dystrophy (Best disease), Late-Onset Retinal Degeneration (L-ORD), and Age-Related Macular Degeneration (AMD) all affect the retina, the light sensing area at the back of the eye. Doctors cannot safely obtain retinal cells to study these diseases. However, cells collected from hair follicles, skin, and blood can be used for research. Researchers want to collect cells from peopl...

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A Phase 1b/2a, Open-Label, Dose-Exploration Basket Study to Investigate the Safety and Tolerability of Subretinally Injected OPGx-BEST1 Administered in Patients With Either Autosomal-Dominant BEST1 Disease (Best Vitelliform Macular Dystrophy [BVMD]) or Autosomal-Recessive Bestrophinopathy (ARB)
A Phase 1b/2a, Open-Label, Dose-Exploration Basket Study to Investigate the Safety and Tolerability of Subretinally Injected OPGx-BEST1 Administered in Patients With Either Autosomal-Dominant BEST1 Disease (Best Vitelliform Macular Dystrophy [BVMD]) or Autosomal-Recessive Bestrophinopathy (ARB)
Enrollment Status: Recruiting
Publish Date: September 30, 2025
Intervention Type: Genetic
Study Phase: Phase 1/Phase 2

Summary: The goal of this clinical trial is to learn if drug OPGx-BEST1 works to treat BVMD and ARB Bestrophinopathy. It will also learn about the safety of drug OPGx-BEST1. The main questions it aims to answer are: Evaluate the safety and tolerability of drug OPGx-BEST1 in one eye (the treatment eye), for 5 years post-injection, in participants with BVMD or ARB. A second question it aims to answer is iden...

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center