INTRODUCTION: Leber hereditary optic neuropathy (LHON) is the most frequent mitochondrial disease causing dyschromatopsia and progressive central visual loss that is subacute in progression and painless. Several studies have been published assessing QoL in patients with LHON, but no estimate of the economic burden has been reported to date. This study aims to quantify direct non-medical and indirect costs (productivity loss) incurred by LHON patients and their informal caregivers in Czechia and Slovakia, as well as to assess their quality of life. METHODS: The study was performed in 27 adults and children with LHON. To determine the socioeconomic burden of LHON, separate questionnaires for adults, children, and their parents were developed, including demographic and socioeconomic data. The following data were collected: age, education, family size, severity of LHON, non-medical direct and indirect costs of LHON. RESULTS: The mean age of adult respondents was 36.1 years (SD 13.1; n = 21). The total cost of absenteeism was EUR 1003 per person/year in adult employees, and EUR 2711 per person/year in children's parents. The productivity loss as a consequence of LHON due to combined relative absenteeism and relative presenteeism was estimated at EUR 9840 per an adult patient/year, and EUR 6298 per a parent/year, respectively. The mean cost of informal care was estimated at EUR 4502 (SD 4772; n = 6) per person/year. The mean VFQ-25 score for adult patients with LHON was 43.47 (SD 15.86). CONCLUSION: The results of this study clearly show that patients with LHON and their families face an extensive socioeconomic burden related to this rare disease. Early, timely and appropriate access to diagnosis, treatment, and reimbursement decisions, but also to psychological counselling and services may help the patients and their relatives adapt and cope with the challenging aspects of vision loss and life with the disease.

CEEOR s r o Prague Czech Republic

Department of Biomedical Technology Faculty of Biomedical Engineering Czech Technical University Prague Kladno Czech Republic

Department of Ophthalmology 1st Faculty of Medicine Charles University and General University Hospital Prague Czech Republic

Department of Paediatric Ophthalmology of the Faculty of Medicine Comenius University Bratislava And the National Institute of Children's Diseases in Bratislava Slovakia

Department of Paediatrics and Inherited Metabolic Disorders 1st Faculty of Medicine Charles University and General University Hospital Prague Czech Republic

Department of Pharmacy and Social Pharmacy University of Veterinary Medicine and Pharmacy in Košice Slovakia

Department of Public Economics Faculty of Economics and Administration Masaryk University in Brno Czech Republic

Ophthalmological Outpatient Clinic University Hospital St Michael's Hospital Bratislava Slovakia

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Man P.Y.W., Turnbull D.M., Chinnery P.F. Leber hereditary optic neuropathy. J. Med. Genet. Mar 2002;39(3):162–169. doi: 10.1136/jmg.39.3.162. PubMed DOI PMC

Milea D., Amati-Bonneau P., Reynier P., Bonneau D. [2–4] Current Opinion in Neurology. Feb 2010;23(1):24–28. doi: 10.1097/WCO.0b013e3283347b27. PubMed DOI

Yu-Wai-Man P., Griffiths P.G., Hudson G., Chinnery P.F. Inherited mitochondrial optic neuropathies. J. Med. Genet. Mar 2009;46(3):145–158. doi: 10.1136/jmg.2007.054270. PubMed DOI PMC

Wallace D.C., et al. MITOCHONDRIAL-DNA mutation associated with lebers hereditary optic neuropathy. Science. Dec 1988;242(4884):1427–1430. doi: 10.1126/science.3201231. PubMed DOI

Howell N., Kubacka I., Halvorson S., Howell B., McCullough D.A., Mackey D. Phylogenetic analysis of the mitochondrial genomes from leber hereditary optic neuropathy pedigrees. Genetics. May 1995;140(1):285–302. PubMed PMC

Oostra R.J., Bolhuis P.A., Wijburg F.A., Zornende G., Bleekerwagemakers E.M. Lebers hereditary optic neuropathy - correlations between mitochondrial genotype and visual outcome. J. Med. Genet. Apr 1994;31(4):280–286. doi: 10.1136/jmg.31.4.280. PubMed DOI PMC

Hage R., Vignal-Clermont C. Leber hereditary optic neuropathy: review of treatment and management. Front. Neurol. May 2021;12 doi: 10.3389/fneur.2021.651639. PubMed DOI PMC

Puomila A., et al. Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland. Eur. J. Hum. Genet. Oct 2007;15(10):1079–1089. doi: 10.1038/sj.ejhg.5201828. PubMed DOI

Mascialino B., Leinonen M., Meier T. Meta-analysis of the prevalence of Leber hereditary optic neuropathy mtDNA mutations in Europe. Eur. J. Ophthalmol. May-Jun 2012;22(3):461–465. doi: 10.5301/ejo.5000055. PubMed DOI

Rosenberg T., et al. Prevalence and genetics of leber hereditary optic neuropathy in the Danish population. Invest. Ophthalmol. Vis. Sci. Mar 2016;57(3):1370–1375. doi: 10.1167/iovs.15-18306. PubMed DOI

Man P.Y.W., Griffiths P.G., Brown D.T., Howell N., Turnbull D.M., Chinnery P.F. The epidemiology of Leber hereditary optic neuropathy in the North East of England. Am. J. Hum. Genet. Feb 2003;72(2):333–339. doi: 10.1086/346066. PubMed DOI PMC

Gorman G.S., et al. Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease. Ann. Neurol. May 2015;77(5):753–759. doi: 10.1002/ana.24362. PubMed DOI PMC

Kolarova H., et al. Leber hereditary optic neuropathy. Ces. Slov. Neurol. Neurochir. 2017;80(5):534–544. doi: 10.14735/amcsnn2017534. DOI

Catarino C.B., et al. Real-world clinical experience with idebenone in the treatment of leber hereditary optic neuropathy. J. Neuro Ophthalmol. Dec 2020;40(4):558–565. doi: 10.1097/wno.0000000000001023. PubMed DOI PMC

Klopstock T., et al. A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy. Brain. Sep 2011;134:2677–2686. doi: 10.1093/brain/awr170. PubMed DOI PMC

Carelli V., et al. International consensus statement on the clinical and therapeutic management of leber hereditary optic neuropathy. J. Neuro Ophthalmol. Dec 2017;37(4):371–381. doi: 10.1097/wno.0000000000000570. PubMed DOI

Kirkman M.A., et al. Quality of life in patients with leber hereditary optic neuropathy. Invest. Ophthalmol. Vis. Sci. Jul 2009;50(7):3112–3115. doi: 10.1167/iovs.08-3166. PubMed DOI

Cui S.L., Jiang H.Q., Peng J.T., Wang J.W., Zhang X.J. Evaluation of vision-related quality of life in Chinese patients with leber hereditary optic neuropathy and the G11778A mutation. J. Neuro Ophthalmol. Mar 2019;39(1):56–59. doi: 10.1097/wno.0000000000000644. PubMed DOI

Ferguson J., de Abreu G. What is the lived experience for people with Leber Hereditary Optic Neuropathy? Br. J. Vis. Impair. May 2016;34(2):111–122. doi: 10.1177/0264619615616260. DOI

Garcia G.A., et al. Profound vision loss impairs psychological well-being in young and middle-aged individuals. Clin. Ophthalmol. 2017;11:417–427. doi: 10.2147/opth.s113414. PubMed DOI PMC

Kessler R.C., et al. The world health organization health and work performance questionnaire (HPQ) J. Occup. Environ. Med. Feb 2003;45(2):156–174. doi: 10.1097/01.jom.0000052967.43131.51. PubMed DOI

Mangione C.M., Lee P.P., Gutierrez P.R., Spritzer K., Berry S., Hays R.D. Development of the 25-item national eye Institute visual function questionnaire. Arch. Ophthalmol. Jul 2001;119(7):1050–1058. doi: 10.1001/archopht.119.7.1050. PubMed DOI

Hatt S.R., et al. Development of pediatric eye questionnaires for children with eye conditions. Am. J. Ophthalmol. Apr 2019;200:201–217. doi: 10.1016/j.ajo.2019.01.001. PubMed DOI PMC

Vodrazkova E., Sefcikova S., Helbich M. Psychometric validation of visual function questionnaire (NEI VQF-25) under local conditions in Slovakia, E.U. Ceská a Slov. Oftalmol. : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnosti. 2012 2012;68(3):102–105. 107-105. PubMed

Leske D.A., et al. Assessing eye-related quality of life and functional vision in children with visual impairment, using the new PedsEyeQ pediatric eye questionnaires. J. Am. Assoc. Pediatr. Ophthalmol. Strabismus. 2019/08/01/2019;23(4):e41. doi: 10.1016/j.jaapos.2019.08.147. DOI

Yang G., Cintina I., Pariser A., Oehrlein E., Sullivan J., Kennedy A. The national economic burden of rare disease in the United States in 2019. Orphanet J. Rare Dis. Apr 2022;17(1):163. doi: 10.1186/s13023-022-02299-5. PubMed DOI PMC

Galvin O., et al. The impact of inherited retinal diseases in the republic of Ireland (ROI) and the United Kingdom (UK) from a cost-of-illness perspective. Clin. Ophthalmol. 2020;14:707–719. doi: 10.2147/opth.s241928. PubMed DOI PMC

Gong J., et al. The impact of inherited retinal diseases in the United States of America (US) and Canada from a cost-of-illness perspective. Clin. Ophthalmol. 2021;15:2855–2866. doi: 10.2147/opth.s313719. PubMed DOI PMC

Chen B.S., Holzinger E., Taiel M., Yu-Wai-Man P. The impact of leber hereditary optic neuropathy on the quality of life of patients and their relatives: a qualitative study. J. Neuro Ophthalmol. Sep 2022;42(3):316–322. doi: 10.1097/wno.0000000000001564. PubMed DOI