Leber’s hereditary optic neuropathy – multiple sclerosis (LHON-MS)

1. Ade Wijaya, MD –July 2021
Leber’s Hereditary Optic
Neuropathy – Multiple Sclerosis
(LHON-MS)

2. Introduction
 The co-existence of MS-like disease with LHON
is rare, but it co-exists 50 times more frequently
than would be expected by chance (Matthews et
al., 2015)
 There are overlaps in clinical and molecular
features of both LHON and MS (Bargiela et al.,
2019)

3. Clinical Presentation
 Young women > men = 2.1:1
 Presence of m.11778G>A mutation
 >2 visual events
 Persisting unilateral vision loss
 Longer time interval between both eyes become
affected
 RRMS
(Pfeffer et al., 2013)

4. D. Bargiela, P.F. Chinnery, Mitochondria in neuroinflammation – Multiple sclerosis (MS), leber hereditary optic neuropathy (LHON) and LHON-MS,
Neurosci. Lett. (2017)

5. medscape

6. Diagnosis
medscape

7. Treatment
 There is no clear guidance on treatment for
patients with LHON-MS
 Case studies have reported visual improvement
with idebenone treatment in patients with LHON-
MS
 Immunomodulatory and MS disease-modifying
drug based on MS activity.
 Gene therapy
 Treatment decisions should be made on a case-
by-case basis and ideally involve the entire care
team
Pfeffer G, Burke A, Yu-Wai-Man P, et al. Clinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutations. Neurology. 2013;81:2073-
2081.

8. Summary
 Rare Entity
 Mithochondrial dysfunction
 Clinical diagnosis, MRI, oligoclonal bands
 There is no clear guidance on treatment for
patients with LHON-MS
 Treatment decisions should be made on a case-
by-case basis and ideally involve the entire care
team
 Possible treatment options: Idebenone; MS
treatment, gene therapy

9. THANK YOU