Semin Ophthalmol. 2025 Nov 14:1-5. doi: 10.1080/08820538.2025.2588702. Online ahead of print.
ABSTRACT
PURPOSE: To investigate the pedigree-based penetrance analysis in Korean Leber hereditary optic neuropathy (LHON).
METHODS: The pedigrees of 32 LHON patients’ families were thoroughly examined. Index patients were probands diagnosed by mitochondrial DNA (mtDNA) mutation at the position of 11,778 or 11,484, while secondary cases were affected relatives ascertained through index cases. We identified susceptible and at-risk family members of the index patients. We categorized susceptible individuals as unaffected offsprings connected within the matrilineal lineage and at-risk individual as a susceptible individual under the age of 25. The penetrance rates for family members by their relationship with the index patients were analyzed. The differences in penetrance rates by degree of relationship and sex were also investigated.
RESULTS: Among the 32 families, 29 (90.6%) had the 11,778 mutation, while 3 (9.4%) had the 14,484 mutation. The average penetrance rates were 37.1% for male and 10.2% for female. For Koreans, one previous study reported a ratio of 1.6:1, and in the present study, the ratio was found to be 2.3:1. The total number of individuals at risk was 24 (10 males and 14 females).
CONCLUSIONS: This study expands previous research by offering new information on the penetrance of LHON in the Korean population through pedigree analysis.
PMID:41236774 | DOI:10.1080/08820538.2025.2588702