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    Leber's Hereditary Optic Neuropathy (LHON)

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    nathaniel
    Leber's hereditary optic neuropathy (LHON) is an inherited mitochondrial disease that causes vision loss, especially in males between 10-30 years old. It is caused by mutations in mitochondrial genes that disrupt energy production in optic nerve cells, leading to their death. Vision loss starts in one eye and progresses to both, leaving central vision severely impaired. While treatment aims to prevent further vision loss, recovery of lost vision is rare. LHON is maternally inherited, so females can pass the mutation to their children, though affected males cannot.

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    Leber's Hereditary Optic Neuropathy (LHON)

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    nathaniel
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    Leber's hereditary optic neuropathy (LHON) is an inherited mitochondrial disease that causes vision loss, especially in males between 10-30 years old. It is caused by mutations in mitochondrial genes that disrupt energy production in optic nerve cells, leading to their death. Vision loss starts in one eye and progresses to both, leaving central vision severely impaired. While treatment aims to prevent further vision loss, recovery of lost vision is rare. LHON is maternally inherited, so females can pass the mutation to their children, though affected males cannot.

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    Leber's hereditary optic neuropathy (LHON) is an inherited mitochondrial disease that causes vision loss, especially in males between 10-30 years old. It is caused by mutations in mitochondrial genes that disrupt energy production in optic nerve cells, leading to their death. Vision loss starts in one eye and progresses to both, leaving central vision severely impaired. While treatment aims to prevent further vision loss, recovery of lost vision is rare. LHON is maternally inherited, so females can pass the mutation to their children, though affected males cannot.

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    13 views3 pages

    Leber's Hereditary Optic Neuropathy (LHON)

    Uploaded by

    nathaniel
    Leber's hereditary optic neuropathy (LHON) is an inherited mitochondrial disease that causes vision loss, especially in males between 10-30 years old. It is caused by mutations in mitochondrial genes that disrupt energy production in optic nerve cells, leading to their death. Vision loss starts in one eye and progresses to both, leaving central vision severely impaired. While treatment aims to prevent further vision loss, recovery of lost vision is rare. LHON is maternally inherited, so females can pass the mutation to their children, though affected males cannot.

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    of 3

    Matthew Xavier

    1015200

    Dr. E. Cummings

    03/20/2016

    Lebers Hereditary Optic Neuropathy (LHON)


    Lebers hereditary optic neuropathy (LHON), also referred to as Lebers Hereditary Atrophy, is
    an inherited form of vision loss. Although the age of onset is typically between 10-30 years, rare
    cases have been reported in early childhood or in the seventh of eighth decade. For some
    unknown reason, males are more likely to be affected than females, with some reported ratios as
    high as 9:1.
    Individuals eventually diagnosed with LHON may initially be asymptomatic, or experience mild
    blurring of the central visual field of one eye. Symptoms may progress from mild unilateral
    visual loss to severe bilateral visual loss, usually worse than 20/200. Second eye involvement is
    usually weeks to months yet the visual loss may be simultaneous. Visual field testing typically
    shows a worsening central or cecocentral scotoma. Central vision is needed for detailed tasks
    such as reading, driving, and recognizing faces. Peripheral vision generally remains intact so the
    affected individual can still walk around independently. Examination may initially reveal normal
    or pseudo-edematous optic nerves, with optic nerve pallor and atrophy appearing subsequently.
    Individuals may harbor concurrent disease including cardiac conduction abnormalities, dystonia,
    and multiple sclerosis-like illness. This is considered "LHON Plus" disease. Few individuals
    recover vision once lost, but visual loss rarely progresses to a state of no light perception.
    Mitochondrial diseases are a clinically heterogeneous group of disorders that arise as a result of
    dysfunction of the mitochondrial respiratory chain. Mutations in the MT-ND1, MT-ND4, MTND4L, or MT-ND6 gene can cause LHON. These genes are found in the DNA of mitochondria,
    which convert the energy from food into a form that cells can use. Each of these genes provides
    instructions for making a protein involved in normal mitochondrial function. These proteins are
    part of the NADH-ubiquinone oxidoreductase chain, a large enzyme complex in mitochondria
    that helps convert oxygen, fats, and simple sugars to energy. Mutations in any of the genes
    disrupt this process. It remains uncertain how these genetic changes cause the death of cells in
    the optic nerve, or why these cells are particularly vulnerable, however, it is thought that the
    mutations impair glutamate transport and increase reactive oxygen species production, which
    leads to apoptosis of retinal ganglion cells, and subsequent atrophy and demyelination of the
    optic nerves, chiasm and tracts.

    Matthew Xavier

    1015200

    Dr. E. Cummings

    03/20/2016

    Many mitochondrial diseases display heteroplasmy. Each cell contains numerous mitochondria,
    and in 10-15% of patients with LHON mutations, only a certain percentage of these
    mitochondria may have mutant DNA. Those with a "mutation load" less than threshold (60-75%
    in some reports) may not exhibit a disease phenotype, and may never lose vision or have related
    health problems. Environmental factors such as smoking, alcohol use and industrial toxins may
    be implicated, as these have mitochondrial-toxic effects, although studies have produced
    conflicting results. It is unknown why males are preferentially affected, but theories include the
    presence of a 'susceptibility locus' on the Y chromosome.
    LHON has a mitochondrial pattern of inheritance, also referred to as maternal or matrilineal
    inheritance. The developing embryo inherits the mitochondria (and mtDNA) in the original
    maternal ova and not in sperm. Therefore, a pattern of inheritance associated with alterations of
    genes in mitochondrial DNA, gives a pattern of the condition affecting both male and female
    offspring, but always being maternally inherited. An affected male does not pass on his
    mitochondria to his children, so all his children will be unaffected.
    Given that there is a clear pattern of LHON inheritance, those with a family member on the
    maternal inheritance chain with LHON should expect that any sudden, painless central vision
    loss is caused by LHON. Diagnosis can be confirmed by identification of a pathogenic mtDNA
    variant on molecular genetic testing of DNA extracted from a blood sample. Often, however,
    people who develop the features of LHON have no family history. Since a person may carry an
    mtDNA mutation without experiencing any signs or symptoms, it is hard to predict which
    members of a family who carry a mutation will eventually develop vision loss or other problems
    associated with LHON. It is important to note, that all females with an mtDNA mutation, even
    those who do not have any signs or symptoms, will pass the genetic change to their children.
    Treatments for LHON include low vision aids for severe visual loss, avoidance of potential
    precipitants of visual loss, antioxidants to help reduce the neurotoxic stress due to reactive
    oxygen species, anti-apoptotic agents and a variety of gene therapies. Symptomatic treatments
    should be considered in all patients with vision-impairing optic neuropathies to improve quality
    of life, in particular to aid with reading, communication, gainful employment, navigation and
    self-operation of a motor vehicle.

    Matthew Xavier

    1015200

    Dr. E. Cummings

    03/20/2016

    References
    . Sadun, A., Morgia, C. and Carelli, V. (2010). Lebers Hereditary Optic Neuropathy. Curr Treat
    Options Neurol, 13(1), pp.109-117. Available at: http://lhon.org/lhon/LHON_101.html [Accessed
    22 Mar. 2016].

    . Ifond.org. (2016). Leber Hereditary Optic Neuropathy, International Foundation for Optic
    Nerve Disease. [online] Available at: http://www.ifond.org/lhon.php3 [Accessed 22 Mar. 2016].

    . Genetics Home Reference. (2016). Leber hereditary optic neuropathy. [online] Available at:
    https://ghr.nlm.nih.gov/condition/leber-hereditary-optic-neuropathy [Accessed 22 Mar. 2016].

    . Yu-Wai-Man, P. and Chinnery, P. (2013). Leber Hereditary Optic Neuropathy. University of


    Washington, Seattle. [online] Available at: http://www.ncbi.nlm.nih.gov/books/NBK1174/
    [Accessed 22 Mar. 2016].

    . Genetics.edu.au. (2016). [online] Available at: http://www.genetics.edu.au/Publications-andResources/Genetics-Fact-Sheets/FactSheetMitochondria [Accessed 22 Mar. 2016].

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