scholarly journals Re: Leber's hereditary optic neuropathy masquerading as optic neuritis with spontaneous visual recovery

2014 ◽  
Vol 97 (2) ◽  
pp. 187-187
Author(s):  
Yu-Jiao Zhang ◽  
Yi Du ◽  
Kaijun Li ◽  
Jian-Feng He
Keyword(s):  
Optic Neuritis ◽  
Optic Neuropathy ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Visual Recovery ◽  
Leber's Hereditary Optic Neuropathy ◽  
Hereditary Optic Neuropathy

Leber's hereditary optic neuropathy triggered by optic neuritis

1996 ◽  
Vol 16 (6) ◽  
pp. 337-341 ◽  
Author(s):  
Masato Wakakura ◽  
Asako Mogi ◽  
Yoshiaki Ichibe ◽  
Keiko Okada ◽  
Haruyuki Hasebe
Keyword(s):  
Optic Neuritis ◽  
Optic Neuropathy ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Leber's Hereditary Optic Neuropathy ◽  
Hereditary Optic Neuropathy

scholarly journals Leber’s hereditary optic neuropathy following unilateral painful optic neuritis: a case report

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Chaeyeon Lee ◽  
Kyung-Ah Park ◽  
Ga-In Lee ◽  
Sei Yeul Oh ◽  
Ju-Hong Min ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Optic Neuritis ◽  
Optic Neuropathy ◽  
Visual Loss ◽  
Early Stage ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Leber's Hereditary Optic Neuropathy ◽  
Intravenous Methylprednisolone ◽  
The Right ◽  
Hereditary Optic Neuropathy

Abstract Background Leber’s hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disease, characterized by acute or subacute, painless, bilateral visual loss. LHON is often misdiagnosed as optic neuritis at an early stage because of the similarity of their clinical presentation. To date, there has been no reported case of actual optic neuritis and LHON in one patient. Case presentation A 40-year-old, healthy man was referred to our clinic with acute painful visual loss in the right eye for 2 weeks. In the right eye, visual acuity decreased to 20/40, and the Ishihara colour test score was 8/14 with a relative afferent pupillary defect. Optic disc swelling was found only in the right eye, and magnetic resonance imaging revealed enhancement of the the right optic nerve, consistent with optic neuritis. After receiving 1 g of intravenous methylprednisolone daily for three days, his ocular pain resolved, and visual acuity improved to 20/20 within 2 weeks. Seven months later, the patient developed acute painless visual loss in the right eye. Visual acuity decreased to 20/200 in the right eye. There was no response to the intravenous methylprednisolone therapy at that time. Eight months later, he developed subacute painless visual loss in the left eye. Genetic testing for LHON was performed and revealed the pathologic mtDNA 11778 point mutation. Conclusions We report a case with painful unilateral optic neuritis preceding the onset of LHON. Even if a typical optic neuritis patient has completely recovered from steroid treatment once in the past, it is advisable to keep in mind the possibility of LHON if acute or subacute loss of vision subsequently or simultaneously occurs in both eyes and does not respond to steroids.

scholarly journals Leber’s hereditary optic neuropathy misdiagnosed as optic neuritis and Lyme disease in a patient with multiple sclerosis

2018 ◽  
Vol 11 (1) ◽  
pp. e227109 ◽  
Author(s):  
Melinda Chang
Keyword(s):  
Multiple Sclerosis ◽  
Optic Neuritis ◽  
Optic Disc ◽  
Optic Neuropathy ◽  
Vision Loss ◽  
White Matter Lesions ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Leber's Hereditary Optic Neuropathy ◽  
Intravenous Steroids ◽  
Hereditary Optic Neuropathy

A 28-year-old Caucasian man developed sudden painless vision loss in the right eye. He was diagnosed with optic neuritis. MRI showed white matter lesions consistent with multiple sclerosis (MS), but no optic nerve enhancement. Eight months later, the left eye was affected in the same manner. Examination showed right optic atrophy and apparent left optic disc swelling. Workup revealed positive Lyme IgG. Differential diagnosis included optic neuritis and Lyme optic neuropathy, and he was treated with intravenous steroids, intravenous immunoglobulin, plasmapheresis and intravenous ceftriaxone without improvement. Neuro-ophthalmology consultation led to identification of pseudo-optic disc oedema, and Leber’s hereditary optic neuropathy (LHON) was suspected and confirmed by genetic testing. LHON may occur in association with MS, and should be considered in patients with MS with vision loss atypical for optic neuritis. This is especially important as new treatments for LHON (including gene therapy) are currently undergoing clinical trials.

scholarly journals Demyelinating or hereditary optic neuropathy? Comparison of selected disease entities

2020 ◽  
Vol 20 (2) ◽  
pp. 82-87
Author(s):  
Iwona Rościszewska-Żukowska ◽  
◽  
Halina Bartosik-Psujek ◽  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Multiple Sclerosis ◽  
Magnetic Resonance ◽  
Optic Neuritis ◽  
Optic Neuropathy ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Leber's Hereditary Optic Neuropathy ◽  
Resonance Imaging ◽  
Retrobulbar Optic Neuritis ◽  
Hereditary Optic Neuropathy

The paper discusses retrobulbar optic neuritis secondary to multiple sclerosis, Leber’s hereditary optic neuropathy, and Leber’s hereditary optic neuropathy with multiple sclerosis-like disease – Harding’s syndrome. Retrobulbar optic neuritis secondary to multiple sclerosis is the most common disease (neuropathy) of the optic nerve in young adults and often the first clinical manifestation of multiple sclerosis. Despite a characteristic triad of symptoms and evident focal demyelination in brain magnetic resonance, misdiagnoses still occur. Leber’s hereditary optic neuropathy (atrophy) is a genetic mitochondrial disease, which manifests as a subacute painless loss of vision, and thus can be mistaken for retrobulbar optic neuritis. The coexistence of hereditary optic neuropathy and Harding’s syndrome is another diagnostic difficulty. All these three conditions, the peak of incidence of which occurs in the second to third decade of life, initially manifest only with visual symptoms due to uni- or bilateral optic neuropathy. Magnetic resonance imaging of the brain may show demyelination, while optical coherence tomography of the fundus may detect thinning of the retinal nerve fibre layers in all these neuropathies. We present clinical differences, as well as variances in retinal optical coherence tomography and magnetic resonance imaging between retrobulbar optic neuritis secondary to multiple sclerosis, Leber’s hereditary optic neuropathy, and Leber’s hereditary optic neuropathy with multiple sclerosis-like disease.

Screening for Leber's hereditary optic neuropathy associated mitochondrial DNA mutations in patients with prominent optic neuritis

1997 ◽  
Vol 2 (6) ◽  
pp. 279-282 ◽  
Author(s):  
Bernadette Kalman ◽  
Jose Luis Rodriguez-Valdez ◽  
Ursula Bosch ◽  
Fred D Lublin
Keyword(s):  
Optic Nerve ◽  
Optic Neuritis ◽  
Optic Neuropathy ◽  
Case Reports ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Leber's Hereditary Optic Neuropathy ◽  
Mt Dna ◽  
Distinct Subgroup ◽  
Dna Mutations ◽  
Hereditary Optic Neuropathy

Previous case reports demonstrated the presence of Leber's hereditary optic neuropathy (LHON) associated mitochondrial (mt) DNA mutations in patients presenting with prominent optic neuritis (PON). By screening the mtDNA, we have excluded vie presence of these mutations in 22 patients with PON, indicating that the frequency of these mutations is less than 4.5% in our selected patient population. Reviewing the clinical data of these patients revealed that severe optic nerve atrophy developed in association with both the benign and the severely disabling form of Multiple Sclerosis (MS). This observation suggests that the prominent feature of ON in MS may be related to local factors or to a selective vulnerability of the optic nerve in some patients. However, it also may be a consequence of a deleterious process associated with inflammatory demyelination in the central nervous system (CNS) of another, genetically probably distinct subgroup of severely disabled patients.

scholarly journals Changes in Visual Function and Correlations with Inner Retinal Structure in Acute and Chronic Leber’s Hereditary Optic Neuropathy Patients after Treatment with Idebenone

2021 ◽  
Vol 10 (1) ◽  
pp. 151
Author(s):  
Berthold Pemp ◽  
Christoph Mitsch ◽  
Karl Kircher ◽  
Andreas Reitner
Keyword(s):  
Optic Neuropathy ◽  
Visual Function ◽  
Therapeutic Potential ◽  
Nerve Fibers ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Visual Recovery ◽  
Leber's Hereditary Optic Neuropathy ◽  
Chronic Patients ◽  
Retinal Structure ◽  
Hereditary Optic Neuropathy

Progressive impairment and degeneration of retinal ganglion cells (RGC) and nerve fibers in Leber’s hereditary optic neuropathy (LHON) usually cause permanent visual loss. Idebenone is currently the only approved treatment. However, its therapeutic potential in different stages of LHON has not been definitely clarified. We aimed to investigate the changes in visual function and correlations with retinal structure in acute and in chronic LHON patients after treatment with idebenone. Twenty-three genetically confirmed LHON patients were followed during treatment using logMAR charts, automated perimetry and optical coherence tomography (OCT). Mean visual acuity improved significantly in acute patients treated within 1 year from onset (−0.52 ± 0.46 logMAR from nadir), in early chronic patients who started after 1–5 years (−0.39 ± 0.27 logMAR from baseline), and in late chronic patients with treatment initiation after >5 years (−0.33 ± 0.28 logMAR from baseline, p < 0.001 all groups). In acute and in chronic patients, strong correlations between OCT and visual function parameters were present only after treatment. This and the sustained visual recovery after treatment may indicate a reactivated signal transduction in dysfunctional RGC that survive the acute phase. Our results support previous evidence that idebenone has therapeutic potential in promoting visual recovery in LHON.

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