Contents

Leber Hereditary Optic Neuropathy (LHON)

Disease Info

Age of onset	Peak between 15–35 years, though onset can range from childhood to the 7th decade
Sex ratio	Male-to-female ratio approximately 3:1 to 5:1. The sex bias suggests a protective role of estrogen or X-linked modifier genes
Penetrance	Only ~50% of male carriers and ~10% of female carriers develop clinical disease, indicating strong modifying factors beyond the primary mtDNA mutation (Yu-Wai-Man et al., 2009 [@yuwaiman2009])
mtDNA haplogroup background	European haplogroup J is associated with increased penetrance of the m.11778G>A and m.14484T>C mutations (Hudson et al., 2007 [@puomila2007])
X-linked modifiers	A putative modifier locus on the X chromosome has been proposed to explain the male predominance, though specific genes remain unidentified
YARS2 and PRICKLE3	Candidate nuclear modifier genes identified through linkage studies in specific LHON pedigrees
Databases	OMIM Orphanet ClinicalTrials PubMed

Knowledge Graph