What is Leber hereditary optic neuropathy (LHON)?
Leber hereditary optic neuropathy, or LHON as it is often referred to, is an inherited eye disease that for reasons not yet known affects males more often than females. This condition typically appears in a person’s teens or twenties. It is not unusual for people diagnosed with LHON to have no family history of the condition due to its mitochondrial pattern of inheritance, which only females pass on to their children.
What are the symptoms of LHON?
Typical symptoms of LHON include blurring and clouding of vision, possibly in one eye or in both. If symptoms originally appear in just one eye, it is usually a matter of several weeks or months before the other eye becomes affected.
Is there a genetic test available?
Yes.
How can I order a genetic test for LHON?
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 Leber hereditary optic neuropathy?
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 Leber hereditary optic neuropathy as found on GeneTests.org
The Genetic and Rare Diseases Information Center (GARD), a collaborative effort of two agencies of the National Institutes of Health: The Office of Rare Diseases Research (ORDR) and the National Human Genome Research Institute (NHGRI), is another most excellent resource.
Articles that may be of interest:
If you have any specific questions about Leber Hereditary Optic Neuropathy please consult your personal physician.
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