A
Guide to
the Genetics of
Leber's Hereditary
Optic Neuropathy 'LHON'
A first statement:
Leber's Hereditary Optic Neuropathy (LHON) is a mitochondrial disorder which is possibly due
to mitochondrial mutations causing the enzyme COMPLEX I to be working at 50% of its normal capacity.
A person who carried a LHON mutation may suffer from blindness as the enzyme COMPLEX I fails to provide
enough 'energy' for the neurons in the optic nerves; but what might prevent this failure from happening,
or what might precipitate this failure, remains unknown.