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Neurological involvement in mitochondrial eye diseases
Author(s) -
La Morgia C.,
Caporali L.,
Di Vito L.,
Carbonelli M.,
Valentino M.L.,
Liguori R.,
Barboni P.,
Carelli V.
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.1755-3768.2017.03654
Subject(s) - atrophy , parkinsonism , medicine , optic neuritis , mitochondrial disease , optic neuropathy , multiple sclerosis , missense mutation , pathology , neuroscience , optic nerve , phenotype , ophthalmology , biology , mitochondrial dna , genetics , disease , psychiatry , gene
Summary The most frequent mitochondrial eye diseases are Leber's Hereditary Optic Neuropathy ( LHON ) and Dominant Optic Atrophy ( DOA ). They are both characterized by optic atrophy due to retinal ganglion cell loss. Extra‐ocular features have been described in both diseases. In particular, neurological involvement has been reported even though, for some of the neurological features in LHON , the possibility of a chance association is still debated. In LHON the main neurological features are: 1) Multiple Sclerosis “like” phenotype 2) Movement disorders including dystonia, parkinsonism and myoclonus 3) Peripheral neuropathy 5) Migraine 6) Hearing loss 6) “ LHON ‐ MELAS ‐Leigh” overlap. In DOA , the “plus” subtype is a well‐recognized entity characterized by the occurrence, over the decades, of optic atrophy and sensorineural deafness, polyneuropathy and myopathy with chronic external ophthalmoplegia, and in some families Parkinsonism and dementia. DOA “plus” is typically associated with missense mutations affecting the OPA 1 GTP ase domain, and skeletal muscle is remarkable for COX deficient fibers and mt DNA multiple deletions. More recently, a Multiple Sclerosis “like” phenotype has been described also in DOA .