Learn About Adult-Onset Vitelliform Macular Dystrophy

What is the definition of Adult-Onset Vitelliform Macular Dystrophy?
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. AVMD usually begins after age 40. 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 mutations 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.
Save information for later
Sign Up
What are the alternative names for Adult-Onset Vitelliform Macular Dystrophy?
  • AVMD
  • Macular dystrophy, vitelliform, adult-onset
  • Vitelliform macular dystrophy, adult-onset
  • Foveomacular dystrophy, adult-onset; AOFMD
  • Foveomacular dystrophy, adult-onset, with choroidal neovascularization
  • Adult-onset foveomacular vitelliform dystrophy
What are the causes of Adult-Onset Vitelliform Macular Dystrophy?
Historically, adult-onset vitelliform macular dystrophy (AVMD) was defined as a genetic disorder; however, recent studies have concluded that only a minority of cases have an identified genetic cause, suggesting that there might be other underlying causes of environmental origin, genetic origin, or a mix of genetics and environment (multifactorial).  More studies are needed to better define other underlying causes that might be present, whether of genetic or environmental origin.  Currently known genetic causes include mutations in the PRPH2, BEST1, IMPG1, and IMPG2 genes. It is additionally suspected that AVMD might be associated with a single-nucleotide polymorphism (variant DNA sequence) in the HTRA1 gene. Single-nucleotide polymorphisms in the HTRA1 gene are additionally associated with age-related macular degeneration.
What are the symptoms of Adult-Onset Vitelliform Macular Dystrophy?
Signs and symptoms of adult-onset vitelliform macular dystrophy typically begin during mid-adulthood, in the fourth or fifth decade of life. At the time of diagnosis, mild blurring or mildly distorted vision may be present. In most cases, the cells underlying the macula become more damaged over time, which can cause slowly progressive vision loss. The condition is usually affects both eyes. It usually does not affect peripheral vision or the ability to see at night. Studies have revealed much variability in the signs, symptoms and progression of this condition. Some people with AVMD do not have any visual symptoms throughout their life. Others may experience ongoing visual loss, but for most people the vision loss is not severe. In general, the long-term outlook (prognosis) is usually good, but loss of central visual function is possible.
Not sure about your diagnosis?
Check Your Symptoms
What are the current treatments for Adult-Onset Vitelliform Macular Dystrophy?
There is no cure or known treatment to stop the progression of adult-onset vitelliform macular dystrophy. Management usually includes a comprehensive eye examination once or twice a year to monitor progression of the disease and for complications such as choroidal neovascularization (CNV).  CNV is sometimes associated with adult-onset vitelliform macular dystrophy because macular degeneration can damage the retinal layers. When this happens, the vascular layer of the eye between the sclera and the retina known as the choroid may produce new blood vessels (neovascularization) which grow up through the damaged layers and leak or bleed into the retina. This can cause vision loss on its own. If CNV does develop, anti-VEGF therapy such as Ranibizumab or Bevacizumab can control and even reverse the CNV. However anti-VEGF therapy does not stop or reverse the vision loss caused by adult-onset vitelliform macular dystrophy, only the extra vision loss that is due to also developing CNV.  Although vision loss is usually slow, when vision is impaired significantly, people with adult-onset vitelliform macular dystrophy may be referred for low vision testing and rehabilitation. Low vision rehabilitation can help maintain and optimize reading ability and improve overall quality of life.
Who are the top Adult-Onset Vitelliform Macular Dystrophy Local Doctors?
Elite
Highly rated in
48
conditions
Obstetrics and Gynaecology
Obstetrics and Gynecology

Tracy Care Center

New York, NY 

Stephen Tsang is an Obstetrics and Gynaecologist and an Obstetrics and Gynecologist in New York, New York. Dr. Tsang has been practicing medicine for over 24 years and is rated as an Elite doctor by MediFind in the treatment of Adult-Onset Vitelliform Macular Dystrophy. He is also highly rated in 48 other conditions, according to our data. His top areas of expertise are Stargardt Macular Degeneration, Late-Onset Retinal Degeneration, Retinitis Pigmentosa, and Retinopathy Pigmentary Mental Retardation. He is board certified in Obstetrics/gynecology and Ophthalmology and licensed to treat patients in California and New York. Dr. Tsang is currently accepting new patients.

Elite
Highly rated in
19
conditions

IRCCS Ospedale San Raffaele

Milan, IT 

Giuseppe Querques is in Milan, Italy. Querques is rated as an Elite expert by MediFind in the treatment of Adult-Onset Vitelliform Macular Dystrophy. He is also highly rated in 19 other conditions, according to our data. His top areas of expertise are Age-Related Macular Degeneration, Late-Onset Retinal Degeneration, Adult-Onset Vitelliform Macular Dystrophy, and Stargardt Macular Degeneration.

 
 
 
 
Learn about our expert tiers
Learn more
Elite
Highly rated in
110
conditions
Ophthalmology

University Of Iowa Hospitals & Clinics

Iowa City, IA 

Edwin Stone is an Ophthalmologist in Iowa City, Iowa. Dr. Stone has been practicing medicine for over 37 years and is rated as an Elite doctor by MediFind in the treatment of Adult-Onset Vitelliform Macular Dystrophy. He is also highly rated in 110 other conditions, according to our data. His top areas of expertise are Late-Onset Retinal Degeneration, Stargardt Macular Degeneration, Retinitis Pigmentosa, and Age-Related Macular Degeneration. He is board certified in Ophthalmology and licensed to treat patients in Iowa. Dr. Stone is currently accepting new patients.

Is Adult-Onset Vitelliform Macular Dystrophy an inherited disorder?
The majority of cases with an identified family history or genetic cause are inherited in an autosomal dominant manner. This means that in order to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from a new (de novo) mutation in the gene. These cases occur in people with no history of the disorder in their family. When caused by a known mutation inherited in an autosomal dominant manner, a person with adult-onset macular dystrophy (AVMD) has a 50% chance with each pregnancy of passing along the altered gene to his or her child. 
The inheritance pattern of AVMD can be confusing as not all individuals with AVMD have a family history and not all individuals who inherit a causative gene mutation develop symptoms.
What are the latest Adult-Onset Vitelliform Macular Dystrophy Clinical Trials?
Development of Induced Pluripotent Stem Cells From Patients With Best Disease and Other Inherited Retinal Degenerative Diseases.
Match to trials
Find the right clinical trials for you in under a minute
Get started
Sildenafil for Treatment of Choroidal Ischemia
What are the Latest Advances for Adult-Onset Vitelliform Macular Dystrophy?
Phase I study of single agent NIZ985, a recombinant heterodimeric IL-15 agonist, in adult patients with metastatic or unresectable solid tumors.
Stage-dependent choriocapillaris impairment in Best vitelliform macular dystrophy characterized by optical coherence tomography angiography.
Tired of the same old research?
Check Latest Advances
Morphological features of focal choroidal excavation and its association with macular pathology in Asian Indian eyes.