Lebers Hereditary Optic Neuropathy Plus is a rare 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.”
In the article below, LHON is described as a multi-organ disease. A patient with LHON PLUS may experience this multi-system involvement, with symptoms involving the central nervous system, ears, endocrinological organs, heart, bone marrow, arteries, kidneys, or the peripheral nervous system.
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 mitochondrial clinics are available at these sites:
LHON Plus Related Websites
LHON Plus is an orphan disease. Please support this rare disease. Your support will help guide much needed research projects and support programs for LHON PLUS patients/families. We are grateful for anything that you can give!