High Mitochondrial DNA Copy Number Is a Protective Factor From Vision Loss in Heteroplasmic Leber's Hereditary Optic Neuropathy (LHON)
Author(s) -
Angelica Bianco,
Luigi Bisceglia,
Luciana Russo,
Luigi Leonardo Palese,
Leonardo D’Agruma,
Sonia Emperador,
Julio Montoya,
Silvana Guerriero,
Vittoria Petruzzella
Publication year - 2017
Publication title -
investigative ophthalmology and visual science
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.935
H-Index - 218
eISSN - 1552-5783
pISSN - 0146-0404
DOI - 10.1167/iovs.16-20389
Subject(s) - heteroplasmy , leber's hereditary optic neuropathy , mitochondrial dna , optic neuropathy , genetics , medicine , ophthalmology , biology , gene , optic nerve
Leber's hereditary optic neuropathy (LHON) is a mitochondrial disease that typically causes bilateral blindness in young men. It is characterized by as yet undisclosed genetic and environmental factors affecting the incomplete penetrance.
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