[PDF] Top 20 Leber hereditary optic neuropathy: current perspectives
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Leber hereditary optic neuropathy: current perspectives
... diseases, Leber hereditary optic neuropathy (LHON) is often considered a prototypical ...Theodore Leber who described 15 patients with the disease among four ... See full document
12
<p>Optical Coherence Tomography Angiography in Neurodegenerative Diseases: A Review</p>
... non-arteritic optic neuropathy (AION and NAION), Leber ’ s hereditary optic neuropathy (LHON) papilloedema, Parkinson ’ s disease, Huntington ’ s disease, amyotrophic lateral ... See full document
15
Visual prognosis better in eyes with less severe reduction of visual acuity one year after onset of Leber hereditary optic neuropathy caused by the 11,778 mutation
... Since 1990, 21 of the 61 patients received 90 mg/day of idebenone (Avan®, Takeda Pharmaceutical Co Ltd., Japan), 120 mg/day of riboflavin, and 750 mg/day of ascorbic acid after giving their informed consent. All agents ... See full document
7
Development and validation of a novel PCR-RFLP based method for the detection of 3 primary mitochondrial mutations in Leber's hereditary optic neuropathy patients
... We also describe the generation of a series of con- trols for LHON applicable for all currently described LHON testing algorithms and demonstrate their ap- plicability in this novel test. The generated controls have also ... See full document
7
<p>A study protocol for evaluating the efficacy and safety of skin electrical stimulation for Leber hereditary optic neuropathy: a single-arm, open-label, non-randomized prospective exploratory study</p>
... the optic nerve; (7) SES may induce epilepsy; (8) the effects of SES on the formation stage of eyes have not been established; (9) the adhesive pad with electrode put on the skin around forehead and cheeks when ... See full document
8
Studies on the genetics and molecular pathogenesis of mitochondrial respiratory chain disorders
... The optic discs appeared normal, and there was no peripapillary ...blind. Optic disc pallor developed after a few ...Leber’s hereditary optic neuropathy (LHON) was ... See full document
161
Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy.
... Four new missense mutations have been identified through restriction analysis and sequencing of the mitochondrial DNAs (mtDNA) from Leber’s hereditary optic neuropathy (LHON) [r] ... See full document
11
Cyclosporine A does not prevent second-eye involvement in Leber’s hereditary optic neuropathy
... in Leber ’ s hereditary optic neuropathy (LHON) in a prospective, open-label, non-randomized, multicenter pilot ...unilateral optic neuropathy occurring within 6 months prior to ... See full document
9
Diseases associated with Flammer Syndrome: An Update
... Leber’s hereditary optic neuropathy [LHON] is a rare inherited disease resulting from mutations in maternal mitochondrial DNA [mtDNA]. LHON leads to acute or subacute visual loss beginning in one ... See full document
6
The Background of Mitochondrial DNA Haplogroup J Increases the Sensitivity of Leber's Hereditary Optic Neuropathy Cells to 2,5 Hexanedione Toxicity
... The functional consequences of the non-synonymous variants clustered on haplogroup J, involving both complex I ND subunit genes and cytochrome b (cyt b), the only mtDNA-encoded subunit of complex III, remain poorly ... See full document
11
Characterization of macular thickness changes in Leber’s hereditary optic neuropathy by optical coherence tomography
... Comparing patients with normal subjects within 3 months, the MT in the cube average thickness, in all quadrants of the inner ring and in the nasal quadrant of the outer ring were significantly thinner in this study. ... See full document
6
Leber’s hereditary optic neuropathy with late disease onset: clinical and molecular characteristics of 20 patients
... Recent studies provided some molecular evidence that estrogens activate the antioxidant enzyme superoxide dismutase 2 and also the mitochondrial biogenesis and thus play a role in maintaining vision in female LHON ... See full document
5
Mitochondrial replacement in an iPSC model of Leber's hereditary optic neuropathy
... [r] ... See full document
7
Cell therapy using retinal progenitor cells shows therapeutic effect in a chemically induced rotenone mouse model of Leber hereditary optic neuropathy
... pathology. Leber hereditary optic neuropathy (LHON) is the most common primary mitochondrial ...to optic nerve degeneration and ... See full document
7
Macular thickness changes in a patient with Leber’s hereditary optic neuropathy
... Much attention should be paid, however, to the atyp- ical and peculiar features of the present 11778 LHON case. These include female onset, lack of optic disc microangiopathy and fiber swelling, and a past history ... See full document
6
Clinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutations
... When comparing LHON-MS with MS, shared features are age at onset, predilection for women, and predominance of the RRMS phenotype (71.1%). However, important differences from MS in our study are the high proportion of ... See full document
10
Mitochondrial DNA mutation m 10680G > A is associated with Leber hereditary optic neuropathy in Chinese patients
... best visual acuity is 0.2 for the right eye and 0.1 for the left eye at the time of his visit to our clinic. Fundus observa- tion revealed mild pale of the optic disc in the right eye and mild edema of the ... See full document
8
Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees.
... The nucleotide sequences of the mitochondrial genomes from patients with Leber hereditary optic neuropathy (LHON) were used for phylogenetic analysis to study the origin and pop[r] ... See full document
18
Clinical Reasoning: A 10-year-old boy with bilateral vision loss
... A 10-year-old previously healthy Caucasian boy was referred for evaluation of bilateral loss of vision with abnormal appearing optic nerves. Two months before the referral, the patient started to exhibit a ... See full document
5
Prevalence of neurogenetic disorders in the North of England
... national diagnostic service for rare mitochondrial dis- eases in Newcastle upon Tyne in the North of England. The minimum prevalence of mitochondrial disease was established through molecular genetics testing for ... See full document
8
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