What is Dominant Optic Atrophy?
Autosomal dominant optic atrophy or Dominant Optic Atrophy (DOA) is, as suggested by the name, an autosomal dominantly inherited optic neuropathy characterized by subnormal visual acuity, visual field abnormalities, and optic nerve pallor in the setting of an otherwise normal eye exam.
What are the symptoms?
Vision loss typically begins as the affected individual reaches school age. The onset and progression are insidious – most patients are unable to identify a precise age of onset. As many as 50% of patients with Dominant Optic Atrophy experience a progressive loss of vision with advancing age. Dyschromatopsia (color blindness) is frequently present but its manifestations are variable. Initially, Dominant Optic Atrophy was thought to be most closely associated with blue color vision deficits ( Kline 1979), but more recent studies have demonstrated that mixed color deficits are most common (81%) ( Votruba 1998).
Is it an inherited disease?
Yes. Family history is often positive, but because of variable expressivity, mildly affected family members may go undiagnosed (e.g., incomplete penetrance). Furthermore, this incomplete penetrance can result in an inheritance pattern that is suggestive of autosomal recesssive or X-linked disease. The penetrance of Dominant Optic Atrophy has been estimated to be as high as 100% (Thiselton 2002) and as low as 43% (Toomes 2001), however these percentages appear to depend on the specific mutation.
Is there a genetic test available?
The John and Marcia Carver Nonprofit Genetic Testing Laboratory is currently developing a genetic test for DOA
How can I order a genetic test for DOA?
Once released, the clinical test for DOA will be posted on the list of "Genetic Tests We Offer, accessible by following this link.
Is there a clinical trial available for this particular condition?
Research regarding the eye and blinding eye diseases is ongoing and the answer to this question might change on any given day. Thankfully there are resources available today to assist anyone interested in monitoring progress.
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Articles of interest
If you have any specific questions about Dominant Optic Atrophy, please consult your personal physician.
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