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Leber's hereditary optic neuropathy: the ophthalmologist point of view
Author(s) -
Barboni P.
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.1755-3768.2017.02321
Subject(s) - leber's hereditary optic neuropathy , medicine , nerve fiber layer , penetrance , ophthalmology , pallor , atrophy , microangiopathy , optic neuropathy , retinal , optic nerve , pathology , surgery , biology , genetics , diabetes mellitus , gene , phenotype , endocrinology
Summary Leber hereditary optic neuropathy (LHON) is a maternally inherited genetic disorder, associated to mitochondrial DNA mutations, with incomplete penetrance and variable expresivity, usually leading to large bilateral centrocecal scotomas in otherwise healthy young adults. The smaller‐caliber fibers of the papillomacular bundle are selectively lost at a very early stage of the pathologic process. Clinically, most patients with LHON go through pre‐symptomatic ophthalmoscopic changes before the acute phase, including peripapillary microangiopathy, small vessel tortuosity, swelling of the retinal nerve fiber layer (RNFL). Once the disease becomes symptomatic, the vascular changes increase with swelling of the superior and inferior fiber arcades and rapid loss of the papillomacular bundle. As the pathologic process progresses, temporal pallor may become evident. Then nerve fiber swelling decreases concomitantly with the extension of optic disc pallor toward complete atrophy; vascular changes follow a similar pattern. By 6 months after onset, optic atrophy is usually evident, and visual loss stabilizes. The chronic phase is reached by 1 year after onset.