LHON PLUS 101 AND PATIENT/SCIENTIFIC VIDEOS
LHON PLUS is the acronym for "Lebers Hereditary Optic Neuropathy Plus" disease.
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Lebers Hereditary Optic Neuropathy Plus is a disease that occurs when a patient has a LHON genetic mutation and also has extraocular symptoms (issues other than vision-related). Profound "vision loss is typically the only symptom of LHON; however, some families with additional signs and symptoms have been reported. In these individuals, the condition is described as "LHON Plus" and genetically it is considered a mitochondrial disease. In addition to vision loss, the features of LHON Plus can include movement disorders, tremors, and abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects). Some affected individuals develop features similar to multiple sclerosis, which is a chronic disorder characterized by muscle weakness, poor coordination, numbness, and a variety of other health problems."
https://ghr.nlm.nih.gov/condition/leber-hereditary-optic-neuropathy
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In the article below, LHON is described as a multi-organ disease. A patient with LHON PLUS may experience this multi-systiem involvement, with symptoms involving the central nervous system, ears, endocrinological organs, heart, bone marrow, arteries, kidneys, or the peripheral nervous system. https://www.dovepress.com/leberrsquos-hereditary-optic-neuropathy-is-multiorgan-not-mono-organ-peer-reviewed-fulltext-article-OPTH
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Since LHON PLUS is a rare disease, patients may struggle to find doctors who are familiar with it, and have experience diagnosing and treating it. The diagnostic odyssey is often lengthy, and can require specialized doctors who are often found only at major teaching hospitals. A neuro-opthalmologist may follow the patient from a vision perspective, while a mitochondrial doctor may follow their overall care. Mitochondrial doctors are usually trained in genetics/biochemistry, neurology, and/or neuromuscular disease. Lists of neuro-opthalmologists and mito clinics are at these sites:
http://www.mitosoc.org/clinics/
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Organizations who support patients seeking care include the following:
LHON.org
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Since LHON Plus is a genetic disorder, it can have far-reaching impacts on other family members. Meeting with a Genetic Counselor can be very helpful in understanding the genetic implications of having a LHON diagnosis, in determining whether other family members should be contacted, and in figuring out how to make and implement such contact. Here is one way to find a Genetic Counsellor:
http://www.nsgc.org/page/find-a-gc-search
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