What is Malattia Leventinese?
Malattia Leventinese (ML) is an autosomal dominant inherited eye condition that results in progressive vision loss as the result of drusen (small, round, yellow-white deposits) that accumulate in the eye beneath the retinal pigment epithelium (RPE). The disease is phenotypically similar to age-related macular degeneration for that reason, however it is rare in comparison. Onset of ML can vary from childhood to old age, but most often appears in midlife.
What are the symptoms?
Patients are often asymptomatic, and can be for years, until they may notice decreased visual acuity, most often in the third or fourth decade of life.
Is there a genetic test available?
Yes. The John and Marcia Carver Nonprofit Genetic Testing Laboratory has released a clinical nonprofit test for ML. See Genetic Tests We Offer
How can I order a genetic test for Malattia Leventinese?
To order this test, start 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.
Where can I learn more about Malattia Leventinese?
GeneTests is a publicly funded web site that provides medical genetics information. While primarily targeted to physicians, researchers and other healthcare providers, patients and their families interested in a reliable resource for their own research will find this up-to-date comprehensive web site an invaluable tool. See Malattia Leventinese as found on GeneTests.org
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If you have any specific questions about Malattia Leventinese, please consult your personal physician.
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