Short Description

Leber's Hereditary Optic Neuropathy (LHON) is a mitochondrial disorder leading to severe visual impairment or even blindness. There is destruction of retinal ganglion cells due to mutation of the mitochondrial genome. It usually manifests in 2nd or 3rd decade of life and can involve both eyes with time delay of some months. Males are affected more than females.

PreTest Information

Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.

Detail Description

LEBER'S HEREDITARY OPTIC NEUROPATHY (LHON) MITOCHONDRIAL MUTATION DETECTION Test

LHON is a rare genetic disorder that affects the optic nerve in the eyes. It is caused by mutations in the mitochondrial DNA, which is passed down from the mother. LHON typically affects young adults and can lead to severe vision loss. Early diagnosis is crucial in managing the disease and preventing further vision loss.

Symptoms of LHON

The symptoms of LHON typically appear in the late teens or early twenties and include:

• Blurred or loss of central vision in one eye
• Loss of central vision in the other eye, usually within a few months
• Difficulty distinguishing colors
• Visual disturbances, such as flashing lights or wavy lines

Diagnosis of LHON

A diagnosis of LHON is typically made based on a combination of clinical examination and genetic testing. A comprehensive eye exam will be performed to assess vision loss and other visual symptoms. Genetic testing will be used to confirm the presence of the mitochondrial mutation that causes LHON.

LHON Mitochondrial Mutation Detection Test

The LHON Mitochondrial Mutation Detection Test is a genetic test that can detect mutations in the mitochondrial DNA associated with LHON. The test is performed using a blood sample and can identify the specific genetic mutation responsible for the disease. This information can be used to confirm a diagnosis of LHON and inform treatment decisions. The cost of the LHON Mitochondrial Mutation Detection Test in India is typically around INR 10,000.

Conclusion

LHON is a rare genetic disorder that can cause severe vision loss in young adults. Early diagnosis is crucial in managing the disease and preventing further vision loss. The LHON Mitochondrial Mutation Detection Test is a genetic test that can confirm the presence of the mitochondrial mutation associated with LHON. If you are experiencing visual symptoms associated with LHON, it is important to seek medical attention and consider genetic testing.