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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Adult-onset vitelliform macular dystrophy


Other Names for this Disease

  • Adult-onset foveomacular vitelliform dystrophy
  • AVMD
  • Foveomacular dystrophy, adult-onset, with choroidal neovascularization
  • Foveomacular dystrophy, adult-onset; AOFMD
  • Macular dystrophy, vitelliform, adult-onset
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Symptoms

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What are the signs and 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.[1][2] At the time of diagnosis, individuals may have minimal visual symptoms (such as mild blurring) or mild metamorphopsia (distorted vision).[2] Cells underlying the macula become more damaged over time, which can cause slowly progressive vision loss.[1] The condition is usually bilateral (affecting both eyes).[2] It usually does not affect peripheral vision or the ability to see at night.[1]

Studies have revealed much variability in the signs, symptoms and progression of this condition. It has been reported that while one individual may not have significant changes in visual acuity over several years, another may experience ongoing visual loss. It has been suggested that in the majority of affected individuals, progression of functional loss is limited.[3] In general, the long-term outlook (prognosis) is usually good, but loss of central visual function is possible.[3]
Last updated: 10/3/2013

The Human Phenotype Ontology provides the following list of signs and symptoms for Adult-onset vitelliform macular dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Visual impairment 90%
Abnormal retinal pigmentation 50%
Abnormality of color vision 50%
Choroideremia 50%
Visual field defect 50%
Retinal detachment 7.5%
Autosomal dominant inheritance -
Vitelliform maculopathy -

Last updated: 9/2/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Vitelliform macular dystrophy. Genetics Home Reference. October 2008; http://ghr.nlm.nih.gov/condition/vitelliform-macular-dystrophy. Accessed 10/3/2013.
  2. Brecher R, Bird AC. Adult vitelliform macular dystrophy. Eye (Lond.). 1990; 4(Pt 1):210-215.
  3. Renner AB. et al. Morphology and functional characteristics in adult vitelliform macular dystrophy. Retina. December 2004; 24(6):929-939.


Other Names for this Disease
  • Adult-onset foveomacular vitelliform dystrophy
  • AVMD
  • Foveomacular dystrophy, adult-onset, with choroidal neovascularization
  • Foveomacular dystrophy, adult-onset; AOFMD
  • Macular dystrophy, vitelliform, adult-onset
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.