title: Leber Hereditary Optic Neuropathy: Visual Recovery in a Patient With the Rare m.3890G>A Point Mutation.
abstract: A 15-year-old boy experienced painless vision loss in the left eye of unknown duration. Leber hereditary optic neuropathy (LHON) was suspected, despite negative testing for the 3 most common pathogenic gene mutations and idebenone 300 mg 3 times daily was prescribed. Nine months later, the patient developed right eye involvement. Complete mitochondrial genome analysis revealed 2 rare variants-m.3890G>A of the MT-ND1 gene and m.8417C>A of the MT-ATP8 gene. The former has been described in severe infantile Leigh syndrome and LHON; the latter is of unknown significance. The patient experienced progressive visual deterioration through 12 months, but improved to 20/20, right eye and 20/25, left eye, at 21 months. Visual recovery can occur in a patient with bilateral optic neuropathy secondary to the rare m.3890G>A point mutation.
authors: Department of Ophthalmology and Visual Neurosciences (JJM, KWN, CM, MSL), University of Minnesota, Minneapolis, Minnesota.
authors: Jared J
authors: JJ
authors: Murray
authors: Kaitlyn W
authors: KW
authors: Nolan
authors: Collin
authors: C
authors: McClelland
authors: Michael S
authors: MS
authors: Lee
mesh_terms: D000293:Adolescent; D001766:Blindness / Q000209:etiology* / Q000503:physiopathology; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D006801:Humans; D008297:Male; D009245:NADH Dehydrogenase / Q000235:genetics* / Q000378:metabolism; D029242:Optic Atrophy, Hereditary, Leber / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D010375:Pedigree; D017354:Point Mutation; D020127:Recovery of Function; D041623:Tomography, Optical Coherence; D014792:Visual Acuity / Q000502:physiology*
chemical_list: D004272:DNA, Mitochondrial; D009245:NADH Dehydrogenase; C515075:NADH dehydrogenase subunit 1, human