. Author manuscript; available in PMC: 2015 Feb 25.

Published in final edited form as: Taiwan J Ophthalmol. 2011 Dec 1;1(1):12–15. doi: 10.1016/j.tjo.2011.09.001

Table 1. Mitochondrial DNA variants associated with LHON.

	Mitochondrial Gene	Nucleotide Change
Common variants (~ 90%)	MTND1	m.3460G>A^*
	MTND4	m.11778G>A^*
	MTND6	m.14484T>C^*
Rare variants (~ 10%)	MTND1	m.3376G>A, m.3635G>A^, m.3697G>A, m.3700G>A, m.3733G>A^, m.4025C>T, m.4160T>C, m.4171C>A^*
	MTND2	m.4640C>A, m.5244G>A
	MTND3	m.10237T>C
	MTND4	m.11696G>A, m.11253T>C
	MTND4L	m.10663T>C^*
	MTND5	m.12811T>C, m.12848C>T, m.13637A>G, m.13730G>A
	MTND6	m.14325T>C, m.14568C>T, m.14459G>A^, m.14729G>A, m.14482C>A^, m.14482C>G^, m.14495A>G^, m.14498C>T, m.14568C>T^*, m.14596A>T
	MTATP6	m.9101T>C
	MTCO3	m.9804G>A
	MTCYB	m.14831G>A

These mtDNA variants are definitely pathogenic. They have been identified in ≥ 2 independent LHON pedigrees, showing segregation with affected disease status. The remaining putative LHON mutations have been found in singleton cases or in a single family, and additional evidence is required before pathogenicity can be irrefutably ascribed.^3,4