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Is there any surgery or treatment available for Leber's eye disease? Even experimental? This is for a 21-year-old male.

I don't know whether you are referring to Leber's congenital amaurosis or Leber's hereditary optic neuropathy.

Leber's congenital amaurosis is a recessive disease that is present at birth and associated with poor vision. There are many genes related to this disease and while there is no treatment at present, gene therapy may yield results in the future.

Leber's hereditary optic neuropathy (LHON) is also genetic and is passed from the mother in her mitochondrial DNA. This disease has an onset in adulthood and has a variable expression. There are studies demonstrating gene therapy showing some ability to improve the condition. I do not believe that there is an approved genetic treatment available right now but you may be able to enroll in a study.

I would call the National Eye Institute and ask about available studies for gene therapy for either of these diseases.

Answered by: Gary Hirshfield, MDDr. Gary Hirshfield

Categories: Eye Diseases, General Eye Health

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Answered: May 17, 2013

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