{"id":743,"date":"2024-05-01T16:16:18","date_gmt":"2024-05-01T16:16:18","guid":{"rendered":"https:\/\/www.chiesimedical.co.uk\/patient\/?page_id=743"},"modified":"2024-10-15T14:57:56","modified_gmt":"2024-10-15T14:57:56","slug":"lebers-hereditary-optic-neuropathy","status":"publish","type":"page","link":"https:\/\/www.chiesimedical.co.uk\/patient\/therapy-areas\/rare-diseases\/lebers-hereditary-optic-neuropathy\/","title":{"rendered":"Leber hereditary optic neuropathy"},"content":{"rendered":"\n
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Alpha-mannosidosis<\/h2>\n <\/div>\n <\/a>\n \n \n
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Fabry disease<\/h2>\n <\/div>\n <\/a>\n \n \n
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Nephropathic cystinosis<\/h2>\n <\/div>\n <\/a>\n \n \n
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Beta-thalassaemia<\/h2>\n <\/div>\n <\/a>\n \n \n
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Leber hereditary optic neuropathy<\/h2>\n <\/div>\n <\/a>\n \n \n
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Homozygous familial hypercholesterolemia<\/h2>\n <\/div>\n <\/a>\n \n \n
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Lipodystrophy<\/h2>\n <\/div>\n <\/a>\n \n \n
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Epidermolysis bullosa<\/h2>\n <\/div>\n <\/a>\n <\/div>\n\n\n\n

Leber hereditary optic neuropathy<\/h2>\n\n\n\n

Leber hereditary optic neuropathy (LHON) is a rare disorder causing rapidly progressing vision loss that typically affects one eye initially followed by the second eye within a few weeks or months, though it can also affect both eyes at the same time. The condition is highly variable and can manifest very differently between patients and even to different degrees in each eye.1\u20134<\/sup> It can affect people of either sex and at any age, but is more common in males in their teens to early adulthood.4,5<\/sup> It is caused by changes in various genes that affect energy production in cells throughout the body, particularly in the eyes, which affect the body\u2019s ability to pass information from the eye to the brain.1,2,4<\/sup><\/p>\n\n\n\n

The gene changes that lead to LHON are usually inherited maternally.2,4 <\/sup>However, not all people who inherit these gene changes will go on to develop the symptoms and be affected by LHON, but they may still be able to pass it onto their own children.2<\/sup> If you, or anyone in your family is affected by LHON, it’s important to discuss this with a genetic specialist to understand how you or your family may be affected.<\/p>\n\n\n\n

LHON is currently estimated to affect between 1 in 30,000 and 1 in 50,000 individuals in the UK.6<\/sup><\/p>\n\n\n\n

Signs and symptoms of LHON include:3<\/sup><\/h3>\n\n\n\n
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Blurring and clouding of central vision that is needed for detailed tasks, while the peripheral vision may be less affected<\/p>\n <\/div>\n \n

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Loss of colour vision<\/p>\n <\/div>\n <\/div>\n\n\n\n\n

Symptoms typically stabilise after a few months, but they may get slowly worse over time or can also spontaneously improve. The degree of any change can vary enormously between patients and even between eyes.2,4<\/sup><\/p>\n\n\n\n

LHON can be diagnosed by reviewing clinical symptoms and family history. LHON is often confirmed by a genetic test to check for a change in one of the various genes responsible for the condition.4,7<\/sup><\/p>\n\n\n\n

It is important to note that those living with LHON may have very different experiences of the disease and symptoms. If you, or anyone you know, is or may be affected by symptoms of LHON, please speak to a healthcare professional as soon as possible to get appropriate advice.<\/p>\n\n\n\n

Further support and resources<\/h3>\n\n\n\n

There are several organisations and charities across the UK that aim to raise awareness for patients with rare diseases. Many provide a supportive community in which individuals and their families can both seek and offer support to others facing similar challenges.<\/p>\n\n\n\n

For resources to support you with managing your condition:<\/p>\n\n\n\n