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Leber's hereditary optic neuropathy: the neurologist point of view
Author(s) -
Carelli V.,
La Morgia C.
Publication year - 2017
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2017.02322
Subject(s) - optic neuropathy , dystonia , medicine , parkinsonism , leber's hereditary optic neuropathy , mitochondrial disease , mitochondrial respiratory chain , atrophy , neuroscience , pathology , sensorineural hearing loss , mitochondrial dna , bioinformatics , optic nerve , disease , mitochondrion , ophthalmology , genetics , biology , hearing loss , psychiatry , audiology , gene
Summary Leber's hereditary optic neuropathy ( LHON ) is a neurodegenerative disorder that selectively affects the retinal ganglion cells ( RGC s), consequently leading to optic atrophy and loss of central vision. The primary cause is a metabolic dysfunction of mitochondria due to mitochondrial DNA mutations affecting the respiratory complex I. Despite the metabolic defect is systemic and measurable in post‐mitotic tissues, the disease is usually limited to the RGC s and leads to profoundly impaired vision. However, adjunctive neurological features may be present in a subset of LHON patients defining the so‐called “plus” variant phenotype. The most frequent neurological features may be a multiple‐sclerosis‐like disease, basal ganglia involvement with dystonia or spastic dystonia and bilateral striatal necrosis, myoclonus, parkinsonism, peripheral neuropathy, migraine and sensorineural hypoacusia. Neurological exam, brain MRI , MR ‐spectroscopy and other ancillary exams may be needed to well characterize the “plus” phenotype of LHON patients. The genetic bases of these LHON “plus” cases are currently unclear, but private mt DNA mutations and nuclear genetic variants may be relevant.