Developments in the Treatment of Leber Hereditary Optic Neuropathy
PURPOSEOF REVIEW: To outline the current landscape of treatments for Leber hereditary optic neuropathy (LHON) along the therapeutic delivery pipeline, exploring the mechanisms of action and evidence for these therapeutic approaches.
Leber’s hereditary optic neuropathy companied with multiple-related diseases
CONCLUSION: Leber’s hereditary optic neuropathy can be accompanied with multiple-related diseases, especially different subtypes of ON, which were also exhibited with IOIS and compression optic neuropathy for the first time in this cohort. This condition may be a distinct entity with an unusual clinical and therapeutic profile.
Clinical application of multicolor imaging in Leber hereditary optic neuropathy
CONCLUSION: As an adjunct to SD-OCT, the MC image, particularly the GR and BG can delineate RNFL more effectively than CFP. The MC image may be a useful adjunct to OCT for detecting or monitoring never fiber bundle defects, providing inexpensive and rapid methods that can quickly identify patients with high suspicion of LHON.
Case report: Long-term follow-up of two patients with LHON caused by DNAJC30:c.152G>A pathogenic variant-case series
CONCLUSIONS: Presented are two autosomal recessive LHON (arLHON, OMIM:619382) cases with the same DNAJC30:c.152G>A pathogenic variant and different degrees of spontaneous visual recovery despite progressive RNFL thinning during a long-term follow-up. This mutation should be screened in every atypical LHON patient.
Neuroimaging in Leber Hereditary Optic Neuropathy: State-of-the-art and future prospects
Leber Hereditary Optic Neuropathy (LHON) is an inherited mitochondrial retinal disease that causes the degeneration of retinal ganglion cells and leads to drastic loss of visual function. In the last decades, there has been a growing interest in using Magnetic Resonance Imaging (MRI) to better understand mechanisms of LHON beyond the retina. This is partially due to the emergence of gene-therapies for retinal diseases, and the accompanying expanded need for reliably quantifying and monitoring…
Childhood-Onset Leber Hereditary Optic Neuropathy-Clinical and Prognostic Insights
CONCLUSIONS: Children who lose vision from LHON before the age of 9 years have a better visual prognosis than those who become affected in later years, likely representing a “form frustre” of the disease.
The care of patients with Leber’s hereditary optic neuropathy/patient associations
We present the therapeutic-rehabilitative then social management of a visually impaired patient by Leber hereditary optic neuropathy (LHON). The different structures that can intervene are explained. Two typical medico-social situations are detailed, namely an LHON occurring in a student, and in an adult who works.
Leber hereditary optic neuropathy: clinical picture and initial workup data
Leber hereditary optic neuropathy (LHON) is a rare mitochondrial disease, responsible for blindness by bilateral involvement of central vision. It usually affects young men but can occur at any age and in women. Its diagnosis is suspected on the family history and the initial clinical picture, and the definitive diagnosis of LHON is obtained by genetic testing and the molecular identification of the mitochondrial genetic point mutation. The initial workup should include an assessment of visual…
Medical treatments in Leber’s hereditary optic neuropathy
Leber’s hereditary optic neuropathy (LHON) is a maternally inherited disease caused by a mutation of mitochondrial DNA. LHON targets retinal ganglion cells (RGC), whose axons form the optic nerve. The mutation that leads to LHON is silent until an unknown trigger causes dysfunction of complex I in the mitochondria of RGC. This results in discontinuation of RGC energy production and, eventually, RGC apoptosis. Patients experience bilateral sequential central scotoma over the course of a few…
Leber hereditary optic neuropathy: update on genetics and pathomechanisms
Leber Hereditary Optic Neuropathy is still a dramatic disease of optic nerve. Origins and mechanisms are extensively studied in the last decades, in link with emergent therapeutic approaches. This article is an update on genetics and pathophysiology of LHON and leber-like inherited optic neuropathies.