Amore G, Romagnoli M, Carbonelli M, et al. Therapeutic options in hereditary optic neuropathies. Drugs. 2021;81:57-86.
Carelli V, Carbonelli M, de Coo IF, et al. International consensus statement on the clinical and therapeutic management of Leber Hereditary Optic Neuropathy. J Neuroophthalmol. 2017;37:371-381.
Carelli V, Valentino ML, Liguori R, et al. Leber's hereditary optic neuropathy (LHON/11778) with myoclonus: report of two cases. J Neurol Neurosurg Psychiatry. 2001;71:813-816.
Carelli V, La Morgia C, Valentino ML, Idebenone treatment in Leber's hereditary optic neuropathy. Brain. 2011;134:e188.
Catarino CB, von Livonius B, Priglinger C, et al. Real-world clinical experience with idebenone in the treatment of Leber hereditary optic neuropathy. J Neuroophthalmol. 2020;40:558-565.
ClinicalTrials.gov. Efficacy study of GS010 for the treatment of vision loss up to 6 months from onset in LHON due to the ND4 mutation (RESCUE). Updated January 28, 2020. Accessed April 12, 2021. https://clinicaltrials.gov/ct2/show/NCT02652767
ClinicalTrials.gov. Efficacy study of GS010 for treatment of vision loss from 7 months to 1 year from onset in LHON due to the ND4 mutation (REVERSE) (REVERSE). Updated January 23, 2020. Accessed April 12, 2021. https://clinicaltrials.gov/ct2/show/NCT02652780
Craven L, Tuppen HA, Greggains GD, et al. Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease. Nature. 2010;465:82-85.
Giorgio V, Schiavone M, Galber C, et al. The idebenone metabolite QS10 restores electron transfer in complex I and coenzyme Q defects. Biochim Biophys Acta Bioenerg. 2018;1859:901-908.
Guy J, Feuer WJ, Davis JL, et al. Gene therapy for Leber Hereditary Optic Neuropathy: low- and medium-dose visual results. Ophthalmology. 2017;124:1621-1634.
Hasham S; Metz G; Catarino G; et al. Treatment of visual impairment in patients with Leber’s hereditary optic neuropathy (LHON) using idebenone (Raxone^®). Invest Ophthalmol Vis Sci.. 2016;.57:5085.
Joshi S, Kermode AG. Harding's disease: an important MS mimic. BMJ Case Rep. 2019;12:e228337.
Jurkute N, Majander A, Bowman R, et al. Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches. Eur J Hum Genet. 2019;27:494-502.
Kirkman MA, Yu-Wai-Man P, Korsten A, et al. Gene-environment interactions in Leber hereditary optic neuropathy. Brain. 2009;132:2317-2326.
Kirkman MA, Korsten A, Leonhardt M, et al. Quality of life in patients with Leber hereditary optic neuropathy. Invest Ophthalmol Vis Sci. 2009;50:3112-3115.
Klopstock T, Yu-Wai-Man P, Dimitriadis K, et al. A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy. Brain. 2011;134:2677-2686.
Majander A, Bowman R, Poulton J, et al. Childhood-onset Leber hereditary optic neuropathy. Br J Ophthalmol. 2017;101:1505-1509.
Meyerson C, Van Stavern G, McClelland C. Leber hereditary optic neuropathy: current perspectives. Clin Ophthalmol. 2015;9:1165-1176.
National Institutes of Health. Leber hereditary optic neuropathy with dystonia. Updated July 7, 2011. Accessed April 12, 2021. https://rarediseases.info.nih.gov/diseases/8476/leber-hereditary-optic-neuropathy-with-dystonia#:~:text=Leber%20hereditary%20optic%20neuropathy%20(LHON,tremors%2C%20and%20other%20unctrolled%20movements.&text=The%20dystonia%20usually%20begins%20in,may%20begin%20in%20early%20adulthood
Newman NJ, Carelli V, Taiel M, et al. Visual outcomes in Leber hereditary optic neuropathy patients with the m.11778G>A (MTND4) mitochondrial DNA mutation. J Neuroophthalmol. 2020;40:547-557.
Newman NJ, Yu-Wai-Man P, Carelli V, et al, for the LHON Study Group. Efficacy and safety of intravitreal gene therapy for Leber hereditary optic neuropathy treated within 6 months of disease onset. Ophthalmology 2021. doi: 10.1016/j.ophtha.2020.12.012. [Epub ahead of print].
Newman NJ, Yu-Wai-Man P, Carellia V, et al. Intravitreal gene therapy versus natural history in patients with Leber hereditary optic neuropathy carrying the m.11778G>A ND4 mutation: systematic review and indirect comparison. Front Neurol. 2021. doi: 10.3389/fneur.2021.662838. [Epub ahead of print].
Puomila A, Hamalainen P, Kivioja S, et al. Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland. Eur J Hum Genet. 2007;15:1079–1089.
Riordan-Eva P, Harding AE. Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations. J Med Genet. 1995;32:81-87.
Sadun A, Kim A. Leber's hereditary optic neuropathy. In: Levin LA, Albert DA, eds. Ocular disease: mechanisms and management. Elsevier;2010:330-336.
Sadun F, De Negri AM, Carelli V, et al. Ophthalmologic findings in a large pedigree of 11778/Haplogroup J Leber hereditary optic neuropathy. Am J Ophthalmol. 2004;137:271-277.
Tachibana M, Sparman M, Sritanaudomchai H, et al. Mitochondrial gene replacement in primate offspring and embryonic stem cells. Nature. 2009;461:367-372.
Vignal C, Uretsky S, Fitoussi S, et al. Safety of rAAV2/2-ND4 gene therapy for Leber Hereditary Optic Neuropathy. Ophthalmology. 2018;125:945-947.
Wan X, Pei H, Zhao MJ, et al. Efficacy and safety of rAAV2-ND4 treatment for Leber's hereditary optic neuropathy. Sci Rep. 2016;6:21587.
Yu-Wai-Man P, Newman NJ. Inherited eye-related disorders due to mitochondrial dysfunction. Hum Mol Genet. 2017;26:R12-R20.
Yu-Wai-Man P, Griffiths PG, Brown DT, Howell N, Turnbull DM, Chinnery PF. The epidemiology of Leber hereditary optic neuropathy in the North East of England. Am J Hum Genet. 2003;72:333–339.
Yu-Wai-Man P, Griffiths PG, Chinnery PF. Mitochondrial optic neuropathies -- disease mechanisms and therapeutic strategies. Prog Retinol Eye Res. 2011;30:81-114.

WebMD Global requires each individual who is in a position to control the content of one of its educational activities to disclose any relevant financial relationships occurring within the past 12 months that could create a conflict of interest.

Faculty

Patrick Yu-Wai-Man, BMedSci, MBBS, PhD, FRCPath, FRCOphth

Department of Clinical Neurosciences
University of Cambridge
Cambridge Eye Unit, Addenbrooke's Hospital
Cambridge, United Kingdom
NIHR Biomedical Research Center
Moorfields Eye Hospital and UCL Institute of Ophthalmology
London, United Kingdom

Disclosures

Disclosure: Patrick Yu-Wai-Man, BMedSci, MBBS, PhD, FRCPath, FRCOphth, has disclosed the following relevant financial relationships:
Served as an advisor or consultant for: GenSight Biologics

Valerio Carelli, MD, PhD

Chief of the Laboratory of Neurogenetics
Department of Biomedical and NeuroMotor Sciences (DIBINEM)
University of Bologna School of Medicine
Bologna, Italy

Disclosures

Disclosure: Valerio Carelli, MD, PhD, has disclosed the following relevant financial relationships:
Served as an advisor or consultant for: Chiesi Farmaceutici; GenSight Biologics; Santhera Pharmaceuticals; Stealth Biotherapeutics
Served as a speaker or a member of a speakers bureau for: Chiesi Famraceutici; Santhera Pharmaceuticals
Received grants for clinical research from: Stealth Biotherapeutics

Nancy J. Newman, MD

LeoDelle Jolley Chair in Ophthalmology
Director, Section of Neuro-Ophthalmology
Professor of Ophthalmology and Neurology Instructor in Neurological Surgery
Emory University School of Medicine
Atlanta, Georgia, United States

The opinions expressed are those of Dr Newman and do not necessarily reflect the views of Emory University or Emory Healthcare. Dr Newman's participation in this activity does not constitute or imply endorsement by Emory University or Emory Healthcare.

Disclosures

Disclosure: Nancy J. Newman, MD, has disclosed the following relevant financial relationships:
Served as an advisor or consultant for: Chiesi; GenSight Biologics; Neurophoenix; Neurodiem; Santhera Pharmaceuticals; Stealth Biotherapeutics
Received grants for clinical research from: GenSight Biologics; Santhera Pharmaceuticals

Editor

Gillian Griffith, BA (Mod), MA

Medical Education Director, WebMD Global, LLC

Disclosures

Disclosure: Gillian Griffith, BA (Mod), MA, has disclosed no relevant financial relationships.

Yoji Yamaguchi, MA

Associate Scientific Content Manager, WebMD Global, LLC

Disclosures

Disclosure: Yoji Yamaguchi, MA, has disclosed no relevant financial relationships.

Content Reviewer

Robert Morris, PharmD

Associate Director, Accreditation and Compliance

Disclosures

Disclosure: Robert Morris, PharmD, has disclosed the following relevant financial relationships:
Served as an advisor or consultant for: ViiV Healthcare
Owns stock, stock options, or bonds from: GlaxoSmithKline

Peer Reviewer

This activity has been peer reviewed and the reviewer has disclosed the following relevant financial relationships:
Served as an advisor or consultant for: Apellis; Deep Mind Technologies Inc; Novartis; Roche
Received grants for educational activities from: Allergan
Owns stock, stock options, or bonds from: Big Picture medical; BitFount

CPD

Neuro-Ophthalmology: What You Need to Know About LHON

Authors: Patrick Yu-Wai-Man, BMedSci, MBBS, PhD, FRCPath, FRCOphth; Valerio Carelli, MD, PhD; Nancy J. Newman, MD
CPD Released: 4/30/2021
THIS ACTIVITY HAS EXPIRED FOR CREDIT
Valid for credit through: 4/30/2022, 11:59 PM EST

Start Activity

Target Audience and Goal Statement

This educational activity is intended for an international audience of non-US ophthalmologists and neurologists.

The goal of this program is to improve awareness of Leber hereditary optic neuropathy (LHON), including diagnosis and emerging therapies.

Upon completion of this activity, participants will:

Have increased knowledge regarding the
- Pathophysiology of LHON
- Role of clinical investigations and molecular testing in the diagnosis of LHON
- Emerging therapies for LHON

Disclosures

Faculty

Patrick Yu-Wai-Man, BMedSci, MBBS, PhD, FRCPath, FRCOphth

Department of Clinical Neurosciences
University of Cambridge
Cambridge Eye Unit, Addenbrooke's Hospital
Cambridge, United Kingdom
NIHR Biomedical Research Center
Moorfields Eye Hospital and UCL Institute of Ophthalmology
London, United Kingdom

Disclosures

Disclosure: Patrick Yu-Wai-Man, BMedSci, MBBS, PhD, FRCPath, FRCOphth, has disclosed the following relevant financial relationships:
Served as an advisor or consultant for: GenSight Biologics

Valerio Carelli, MD, PhD

Chief of the Laboratory of Neurogenetics
Department of Biomedical and NeuroMotor Sciences (DIBINEM)
University of Bologna School of Medicine
Bologna, Italy

Disclosures

Disclosure: Valerio Carelli, MD, PhD, has disclosed the following relevant financial relationships:
Served as an advisor or consultant for: Chiesi Farmaceutici; GenSight Biologics; Santhera Pharmaceuticals; Stealth Biotherapeutics
Served as a speaker or a member of a speakers bureau for: Chiesi Famraceutici; Santhera Pharmaceuticals
Received grants for clinical research from: Stealth Biotherapeutics

Nancy J. Newman, MD

LeoDelle Jolley Chair in Ophthalmology
Director, Section of Neuro-Ophthalmology
Professor of Ophthalmology and Neurology Instructor in Neurological Surgery
Emory University School of Medicine
Atlanta, Georgia, United States

The opinions expressed are those of Dr Newman and do not necessarily reflect the views of Emory University or Emory Healthcare. Dr Newman's participation in this activity does not constitute or imply endorsement by Emory University or Emory Healthcare.

Disclosures

Disclosure: Nancy J. Newman, MD, has disclosed the following relevant financial relationships:
Served as an advisor or consultant for: Chiesi; GenSight Biologics; Neurophoenix; Neurodiem; Santhera Pharmaceuticals; Stealth Biotherapeutics
Received grants for clinical research from: GenSight Biologics; Santhera Pharmaceuticals

Editor

Gillian Griffith, BA (Mod), MA

Medical Education Director, WebMD Global, LLC

Disclosures

Disclosure: Gillian Griffith, BA (Mod), MA, has disclosed no relevant financial relationships.

Yoji Yamaguchi, MA

Associate Scientific Content Manager, WebMD Global, LLC

Disclosures

Disclosure: Yoji Yamaguchi, MA, has disclosed no relevant financial relationships.

Content Reviewer

Robert Morris, PharmD

Associate Director, Accreditation and Compliance

Disclosures

Disclosure: Robert Morris, PharmD, has disclosed the following relevant financial relationships:
Served as an advisor or consultant for: ViiV Healthcare
Owns stock, stock options, or bonds from: GlaxoSmithKline

Peer Reviewer

Accreditation Statements

For Physicians

The Faculty of Pharmaceutical Medicine of the Royal Colleges of Physicians of the United Kingdom (FPM) has reviewed and approved the content of this educational activity and allocated it 0.5 continuing professional development credits (CPD).

Contact WebMD Global

For questions regarding the content of this activity, contact the accredited provider for this CME/CE activity noted above. For technical assistance, contact [email protected]

Instructions for Participation and Credit

There are no fees for participating in or receiving credit for this online educational activity. For information about your eligibility to claim credit, please consult your professional licensing board.

This activity is designed to be completed within the time designated on the title page; physicians should claim only those credits that reflect the time actually spent participating in the activity. To successfully earn credit, participants must complete the activity online during the credit eligibility period that is noted on the title page.

Follow these steps to claim a credit certificate for completing this activity:

Read the information provided on the title page regarding the target audience, learning objectives, and author disclosures, read and study the activity content and then complete the post-test questions. If you earn a passing score on the post-test and we have determined based on your registration profile that you may be eligible to claim CPD credit for completing this activity, we will issue you a CPD credit certificate.
Once your CPD credit certificate has been issued, you may view and print the certificate from your CME/CE Tracker. CPD credits will be tallied in your CME/CE Tracker and archived for 6 years; at any point within this time period you can print out the tally as well as the certificates by accessing "Edit Your Profile" at the top of the Medscape Education homepage.

We encourage you to complete an Activity Evaluation to provide feedback for future programming.

You may now view or print the certificate from your CME/CE Tracker. You may print the certificate but you cannot alter it. Credits will be tallied in your CME/CE Tracker and archived for 6 years; at any point within this time period you can print out the tally as well as the certificates by accessing "Edit Your Profile" at the top of your Medscape homepage.

*The credit that you receive is based on your user profile.

From Medscape Education

CPD

Neuro-Ophthalmology: What You Need to Know About LHON

Authors: Patrick Yu-Wai-Man, BMedSci, MBBS, PhD, FRCPath, FRCOphth; Valerio Carelli, MD, PhD; Nancy J. Newman, MDFaculty and Disclosures

THIS ACTIVITY HAS EXPIRED FOR CREDIT

CPD Released: 4/30/2021

Valid for credit through: 4/30/2022, 11:59 PM EST

processing....

Sous-titres en français

« Return to: Neuro-Ophthalmology: What You Need to Know About LHON

Download Slides

Activity Transcript

Print
Like Tweet

References

Faculty and Disclosures

Faculty

Patrick Yu-Wai-Man, BMedSci, MBBS, PhD, FRCPath, FRCOphth

Valerio Carelli, MD, PhD

Nancy J. Newman, MD

Editor

Gillian Griffith, BA (Mod), MA

Yoji Yamaguchi, MA

Content Reviewer

Robert Morris, PharmD

Peer Reviewer

CPD

Neuro-Ophthalmology: What You Need to Know About LHON

Target Audience and Goal Statement

Disclosures

Faculty

Patrick Yu-Wai-Man, BMedSci, MBBS, PhD, FRCPath, FRCOphth

Valerio Carelli, MD, PhD

Nancy J. Newman, MD

Editor

Gillian Griffith, BA (Mod), MA

Yoji Yamaguchi, MA

Content Reviewer

Robert Morris, PharmD

Peer Reviewer

Accreditation Statements

For Physicians

Instructions for Participation and Credit

Neuro-Ophthalmology: What You Need to Know About LHON

Sous-titres en français