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LHON / Optical Atrophies: Leber's Hereditary Optic Neuropathy, - ND1, ND4, ND6

Clinical Features

The clinical picture of LHON is a maternal inherited bilateral visual loss, affecting mostly young men (15-40 years). More than 90% of the cases are caused by 3 "primary" LHON mutations in different mitochondrial ND genes. In affected families carrying a homoplasmic mtDNA LHON mutation 40-50% of males, but only 10-15% of females present with visual loss, implying a role of a possible modifying gene on the X-chromosome.

Genetic Information

More than 90% of the patients carry one of the following "primary" LHON mutations:

• MTND1 m.3460G>A
• MTND4 m.11778G>A
• MTND6 m.14484T>C

Prevalence

The prevalence of bilateral optic neuropathy caused by pathogenic LHON mutations in North-East England is 3 : 100 000. The prevalence for carrying a LHON mutations is 12 : 100 000.

Diagnostic