Macular Dystrophy, Vitelliform 3
Patient Information
Characteristics
Background and History
The macula is a specialized portion of our retinas containing the highest concentration of rods and cones which respond to light and transmit electrical impulses to the brain that enable us to see. Diseases of the macula are of many kinds and many, including this one occur secondary to gene mutations.
This condition is one of a group of retinal conditions known as vitelliform macular dystrophy.
Clinical Correlations
The onset of signs and symptoms, consisting of loss of vision, patchy loss of retinal pigmentation, and deposits in the retina typically are noted in midlife. In many patients vision is near normal and remains relatively stable although some patients may have legal blindness, in the range of 20/200 or slightly worse. Central vision of the kind that we use for reading and fine detail is primarily affected whereas peripheral or side vision usually remains intact.
There are no known abnormalities except for those in the eye.
Genetics
Inheritance
This condition is inherited in an autosomal dominant pattern. A parent with this variant can pass it on with a 50% probability for each child.
Pedigree
Autosomal dominant
Autosomal dominant disorders require only one mutation for the disease to be expressed. Since an affected parent has two chromosomes, only one of which has the mutant gene, parents can expect that half (50%) of their children will receive that one and inherit the disease. It is common for individuals that inherit the mutation, however, to not have evidence of the disease (nonpenetrance).
Autosomal dominant inheritance leads to a vertical pattern of transmission
Diagnosis and Prognosis
This condition is diagnosed by an ophthalmologist (MD eye doctor) based on the symptoms and the appearance of the retina. A fluorescein angiogram (consisting of pictures of the retina following an injection of dye into the circulation) can be helpful in the diagnosis.
Vision is highly variable among patients and while there is generally some slow loss of vision throughout life, there is much variation of signs and symptoms among individuals. Longevity is not impacted.
No treatment is available for the disease but low vision devices can be helpful, especially for reading and near work.
Web Resources
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