Introduction to Hereditary Optic

It has been suggested that haplogroup background could influence the penetrance and presentation of disease-causing mutations; however, to date there is only one well-established example of such an effect: the increased penetrance of two Complex I Leber's hereditary optic neuropathy mutations on a haplogroup J background.

Introduction: We aimed to study the change in the retinal perfusion in Leber’s hereditary optic neuropathy (LHON).

Papaverine, a poorly soluble opium alkaloid, has recently been shown to reduce retinal inflammation due to which it may have therapeutic application in the management of Leber's hereditary optic neuropathy.

Mutations in mitochondrial DNA (mtDNA) are the most important causes for Leber’s hereditary optic neuropathy (LHON).

Leber’s hereditary optic neuropathy (LHON) is an inher‐ ited optic neuropathy characterized by acute or subacute, painless, sequential or simultaneous, bilateral vision loss.

Autosomal recessive inheritance pattern in a case of hereditary optic atrophy is uncommon.

Leber’s hereditary optic neuropathy (LHON) is the most frequent mitochondrial disease and was the first to be genetically defined by a point mutation in mitochondrial DNA (mtDNA).

Hereditary optic neuropathy (HON) is a group of genetically heterogeneous diseases that cause optic nerve atrophy and lead to substantial visual impairment.

11778 locus, which is associated with Leber's hereditary optic neuropathy (LHON) using 2 droplet digital PCR platforms (Stilla Naica and Bio-Rad QX200) and the standard NGS strategy.

Leber’s hereditary optic neuropathy (LHON) is the most common disorder due to mitochondrial DNA mutations and complex I deficiency.

Neurological abnormalities were observed in two survivors, including vison loss related to Leber's hereditary optic neuropathy in one patient and psychomotor retardation related to Leigh syndrome in the other.

With interest we read the article by Kim about the case of a 31-year-old previously healthy male in whom Leber’s hereditary optic neuropathy (LHON) was diagnosed after unilateral head and unilateral ocular trauma in an accident [1].

about 138 patients with Leber’s hereditary optic neuropathy (LHON) who did not carry any of the three classical LHON mtDNA variants [1].

Hereditary optic neuropathies are a cluster of disorders that can present with sudden, subacute, or slowly progressive visual decline, typically affecting the central vision and color vision.

Leber’s hereditary optic neuropathy (LHON) is the first mitochondrial disease defined, by Von Graefe in 1958 [1].

Oliver Marmoy and Suresh Viswanathan review the sensitivity and timing of functional changes in electrophysiological features, including the newer Photopic Negative Response, combined with ocular imaging and visual field assessments across a wide range of optic nerve conditions, such as hereditary optic nerve disease, optic neuritis, optic nerve compression, papilloedema and concussive optic neuropathy in sports and military situations.

There have been many studies of optic nerve imaging and post-processing that have provided insights into pathophysiology of optic neuritis related to multiple sclerosis and neuromyelitis optica spectrum disorder, glaucoma, and Leber's hereditary optic neuropathy.

Examining individuals with Leber's hereditary optic neuropathy (LHON) provides a rare opportunity to understand how changes in mitochondrial DNA and loss of vision can be related to changes in organization of the whole-brain structural network architecture.

Leber’s hereditary optic neuropathy (LHON) is a mitochondrial disease characterized by bilateral severe subacute central vision loss and a mutation in the mitochondrial DNA (mtDNA).

Leber’s Hereditary Optic Neuropathy (LHON) was a common maternally inherited disease causing severe and permanent visual loss which mostly affects males.

After analysing 51 families with negative molecular diagnostic tests, from a cohort of 200 families with hereditary optic neuropathy (HON), we identified two novel MCAT mutations in a female patient who presented with acute, sudden, bilateral, yet asymmetric, central visual loss at the age of 20.

In this report, we investigated the molecular mechanism underlying the Leber’s hereditary optic neuropathy (LHON)-associated tRNAAla 5587A>G mutation, which changes a highly conserved adenosine at position 73 (A73) to guanine (G73) on the 3’-end of the tRNA acceptor stem.

Leber's Hereditary Optic Neuropathy (LHON) is a hereditary mitochondrial neurodegenerative disease of unclear etiology and lack of available therapeutic alternatives.

Background Leber’s hereditary optic neuropathy (LHON) is a rare mitochondrial disorder, characterized by acute or subacute bilateral vision loss, frequently leading to significant chronic disability, mainly in young people.

Leber’s hereditary optic neuropathy (LHON) is a mitochondrial disorder that causes loss of central vision.

Finsterer for his interest in my recently published article in Documenta Ophthalmologica, a case report involving Leber’s hereditary optic neuropathy (LHON) triggered after ocular and head trauma [1].

7%, hereditary optic neuropathies 6.

The patients with unilateral/bilateral progressive visual loss or non-substantial recovery of visual acuity were screened for genetic testing for Leber's hereditary optic neuropathy.

Disorders being targeted for genetic therapy include retinitis pigmentosa (RP), choroideremia (CHM), achromatopsia (ACHM), Leber's hereditary optic neuropathy, usher syndrome (USH), X-linked retinoschisis, and Stargardt disease.

Leber's Hereditary Optic Neuropathy is the most prevalent mitochondrial neurological disease caused by mutations in mitochondrial DNA encoded respiratory complex I subunits.

The aim of the current study was to investigate the presence of mitochondrial mutations, including OPA1 and Leber’s hereditary optic neuropathy (LHON)-mitochondrial DNA (mtDNA), in patients with EON and to determine their effect on clinical features of these patients.

The study analyses data from clinical and genetic examination of 114 patients, as well as examination of cytological skin fibroblasts of 20 patients with hereditary optic neuropathy (HON).

Jedną z chorob mitochondrialnych jest dziedziczna neuropatia nerwow wzrokowych Lebera (LHON, Leber’s hereditary optic neuropathy ), charakteryzująca sie bezbolesnym pogorszeniem ostrości widzenia.

Leber's hereditary optic neuropathy affects young males and visual loss tends to be painless and subacute, typically involving both optic nerves.

about an uncontrolled, prospective, intervention study of 51 patients with Leber’s hereditary optic neuropathy (LHON) due to the ND4 variant m.

However, to date there is only one well‐established example of such an effect: the increased penetrance of two Leber's hereditary optic neuropathy mutations on a haplogroup J background.

Leber’s hereditary optic neuropathy (LHON) is a mitochondrially inherited disorder characterised by bilateral, painless visual loss which leads to severe optic atrophy.

A case of Leber's hereditary optic neuropathy is reported in order to draw attention to this rare mitochondrial disease in the differential diagnostics and to show current treatment options.

When a middle-aged male patient presented with painless vision loss, a pale optic disc, and predominantly papillomacular bundle damage in both eyes for unknown reasons, Leber’s hereditary optic neuropathy and other diseases that may cause optic atrophy in both eyes should be ruled out at first, and furthermore, the history of toxin and drug exposure should be taken into consideration to exclude the possibility of toxic optic neuropathy.

Authors stated that asymptomatic mitochondrial mutation for Leber’s hereditary optic neuropathy (LHON) could be present in general population, however, the patient in question had signs of optic neuropathy (i.

So far, only one patient with Leber’s Hereditary Optic Neuropathy (LHON) has been reported with CBS [3].

, optic nerve head drusen, hereditary optic neuropathy, etc.

Choroidal thinning has been suggested in Leber’s hereditary optic neuropathy (LHON).

Bilateral Leber's hereditary optic neuropathy (LHON) was linked to the m.

Certain mutations in mitochondrial DNA (mtDNA) are associated with Leber's hereditary optic neuropathy (LHON).

The mitochondrial genetic disorder, Leber’s hereditary optic neuropathy (LHON), is caused by a mutation in MT-ND4 gene, encoding NADH dehydrogenase subunit 4.

Leber’s hereditary optic neuropathy (LHON) is a form of disorder caused by pathogenic mutations in a mitochondrial DNA.

Mitochondrial DNA (mtDNA) mutations have been associated with Leber's hereditary optic neuropathy (LHON) and their pathophysiology remains poorly understood.

about a Han Chinese family with Leber’s hereditary optic neuropathy (LHON) due to the secondary LHON mtDNA variant m.

PURPOSE OF REVIEW The diagnosis of visual loss from toxic-metabolic and hereditary optic neuropathies may be delayed in some cases because of a failure to elicit important information in the clinical history or to recognize typical examination findings.

The article offers a review of mitochondrial biogenesis in hereditary optic neuropathies.

Idebenone has recently been investigated as a drug therapy for Leber's hereditary optic neuropathy (LHON), a rare genetic mitochondrial disease that causes rapid and progressive bilateral vision loss.

11778G>A (MT‐ND4) variant in a male with a complex mosaic disorder and a severe ophthalmological phenotype, uncovering undiagnosed Leber's hereditary optic neuropathy (LHON).

Gene therapy, through the use of viral vectors, has shown promising results in clinical trials, particularly for diseases with specific genetic mutations like Leber's hereditary optic neuropathy.

In that year, two different groups of researchers discovered, respectively, large-scale single deletions of mitochondrial DNA (mtDNA) in muscle biopsies from patients with “mitochondrial myopathies” and a point mutation in the mtDNA gene for subunit 4 of NADH dehydrogenase (MTND4), associated with maternally inherited Leber’s hereditary optic neuropathy (LHON).

Optic nerve atrophy represents the most common form of hereditary optic neuropathies leading to vision impairment.

Japan Eye Genetics Consortium (JEGC) was launched in 2011 to identify gene mutations responsible for 37 hereditary retinal diseases including hereditary optic neuropathy and hereditary glaucoma in Japanese population.

Keywords: Severe ovarian hyperstimulation syndrome, immunoglobulins CASE DESCRIPTION A 32-year-old woman with hereditary optic atrophy due to mutation of the OPA1 gene was admitted to hospital for dyspnoea.

The most common MDs are Leber's hereditary optic neuropathy (LHON), chronic progressive external ophthalmoplegia (CPEO) and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS).

Leber’s hereditary optic neuropathy (LHON) occurs as a result of three common mutations in 90% of affected patients, with the point prevalence of disease standing at 3.

To report a case of a young patient with a clinical condition suggestive of Leber’s hereditary optic neuropathy (LHON) confirmed by genetic testing.