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Talking to your patients about vision loss
Have a conversation with your patient and their family to discuss the nature of LHON and poor visual prognosis.Footnote1,Footnote2 Offer genetic counselling and advise them about the potential risk factors.Footnote1 Recommend a healthy diet, including multivitamins and high-quality proteins.Footnote2
Advise your patients about the potential risk factors to avoid
Checklist for LHON caregivers1,3
Maintain a diary to record the progressing symptoms of LHON
Be aware of the potential triggers and risk factors you need to avoid1
Identify a local neuro-ophthalmologist or ophthalmologist who understands LHON1
Complete a baseline vision exam with an LHON specialist1
Try to confirm LHON diagnosis as soon as possible1
Maintain an electronic file for all the visual and genetic tests that have been performed1
Obtain and store a copy of a maternal relative’s test results1
Identify a genetic counsellor to discuss LHON issues within your family1
Speaking to a mental health therapist could help you cope with your diagnosis3
Genetic counselling
LHON is caused by mutations in the mitochondrial DNA (mtDNA) and is passed on by maternal inheritance. The mother with an mtDNA mutation may or may not have developed visual loss.Footnote1
However in rare cases, in the absence of family history, mutations in a nuclear coded gene, DNAJC30, have also been identified resulting in an autosomal recessive mode of inheritance (arLHON).Footnote4
A woman with a primary LHON-causing mtDNA mutation will pass it on to all her children. However, a male with a primary LHON-causing mtDNA mutation cannot pass it on to his children.Footnote1
In approximately 60% of families, a history of visual loss affecting maternal relatives is present and up to 40% deny a known family history.Footnote1 Genetic counselling for LHON is complicated due to the gender- and age-dependency of the LHON-causing mutations, and penetrance can vary markedly in different branches of the same family and between families harbouring the same LHON-causing mtDNA pathogenic variant.Footnote1
Once an LHON-causing mutation is identified, prenatal testing for a pregnancy at increased risk and preimplantation genetic testing are possible.Footnote1 However, accurate interpretation of a positive prenatal test result is difficult as the mtDNA mutational load in amniocytes and chorionic villi may not correspond to that of the foetal or adult tissues.Footnote1 The presence of the LHON-causing mutation does not predict the occurrence, age of onset, severity, or rate of progression of visual loss.Footnote1
Mental health support
Vision loss can be a traumatic life event.Footnote3 Care of patients experiencing vision loss requires attention to needs that extend beyond the immediate visual concerns.Footnote3
Visual impairment associated with LHON has a tremendous impact on a patient’s psychological well-being regarding mood, interpersonal interactions, and career-related goals.Footnote3
Ophthalmologists may serve an important role in the emotional adaptation of these patients along with managing vision loss.Footnote3 Patients and caregivers may also benefit from seeing a mental health professional.Footnote3
Recommending joining LHON patient groups is also helpful in making them aware that they aren’t alone.Footnote3
Checklist for LHON caregivers
LHON has a significant impact on the family members of people diagnosed with LHON.
It requires them to offer mental, physical and emotional support.
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Yu-Wai-Man P and Chinnery PF. Leber Hereditary Optic Neuropathy. GeneReviews® [Internet]. 2021. Available at: https:// www.ncbi.nlm.nih.gov/books/NBK1174/. Accessed: March 2023.
Theodorou-Kanakari A, et al. Adv Ther. 2018;35:1510–18.
Garcia GA, et al. Clin Ophthalmol. 2017:11;417–27.
Stenton SL, et al. J Clin Invest. 2021 Mar 15;131:e138267.
Disclaimer: The information on this website is intended only to provide knowledge of Leber’s hereditary optic neuropathy (LHON). This website has been produced by Chiesi Pharmaceuticals. The website has been developed in accordance with industry and legal standards to provide information for healthcare professionals about LHON. Chiesi Pharmaceuticals makes every reasonable effort to include accurate and current information. However, the information provided in this website is not exhaustive.