This recently reported disorder of the retina is clinically variable. It affects primarily the macula which is the area of the retina (the tissue that responds to light) containing the highest concentration of rods and cones and is therefore the portion that gives us our sharpest vision. A dystrophy is a degenerative condition.
Changes in vision are often noted during adolescence but some patients may retain good vision into the 6th decade or later. One eye may see much better than the other but nothing is known about the rate of vision deterioration. Vision is generally much better in young people and some can see the 20/20 letters on the eye chart. However, with time the vision is limited to counting fingers in many individuals. Some patients have difficulty with color discrimination.
The diagnosis can be difficult to make since clinical examination of the retina usually reveals no abnormalities. Even some retinal tests fail to show any disease. Newer tests such as specialized electroretinograms (ERGs) and optical coherence tomography (OCT) do show relatively minor changes.
This is an autosomal dominant disorder resulting from a gene mutation. Affected parents can transmit the mutation (and disease) to 50% of their children but many patients have been seen who have no family history of similar disease among their relatives.
Since the usual eye examination does not reveal signs of the disease, the diagnosis by an eye doctor is often one arrived at by exclusion of other eye disorders. It may be suspected on the basis of the family history and in such cases the ERG and the OCT can be used to confirm the diagnosis. It is impossible to estimate the rate of progression of this dystrophy. There is no evidence of disease outside of the eye.