Over 3 decades ago, Leber hereditary optic neuropathy (LHON) was the first condition found to be associated with a mitochondrial DNA mutation, and now remarkably it is inaugural disease undergo gene therapy trials. In this issue, Newman et al1Newman N.J. Yu-Wai-Man P. Carelli V. al.Efficacy safety of intravitreal for treated within 6 months onset.Ophthalmology. 2021; 128: 649-660Abstract Full T...

PURPOSE OF REVIEW Leber hereditary optic neuropathy (LHON) is the most common primary mitochondrial DNA (mtDNA) genetic disorder in the population. We address the clinical evolution of the disease, the secondary etiological factors that could contribute to visual loss, and the challenging task of developing effective treatments. RECENT FINDINGS LHON is characterized by a preclinical phase tha...

Leber hereditary optic neuropathy (LHON) is caused by point mutations in mitochondrial DNA (mtDNA), and is characterized by bilateral, painless sub-acute visual loss that develops during the second decade of life. Here we report the case of a five year old girl who presented with clinical and neuroradiological findings reminiscent of Leigh syndrome but carried a mtDNA mutation m.11778G>A (p.R34...

The sequence of the human mitochondrial genome was established almost 25 years ago and has been used in analysis of human population migrations, forensic medicine, longevity studies and in investigation of the causes of mitochondrial diseases.It is a small compact genome of 16.5 kb containing information about 13 protens, 2 rRNAs and 22 tRNAs.There are many variants (haplogroups) of the human m...

background: leber hereditary optic neuropathy (lhon) is an inherited form of bilateral optic atrophy leading to the loss of central vision.  the primary cause of vision loss is mutation in the mitochondrial dna (mtdna), however, unknown secon­dary genetic and/or epigenetic risk factors are suggested to influence its neuropathology.  in this study folate gene polymor­phisms were examined as a po...

PURPOSE There are many similarities in the clinical presentation of Leber hereditary optic neuropathy (LHON) and in patients who have optic neuropathy and a history of heavy tobacco and alcohol consumption. The main objective of this study is to investigate the frequency of primary and secondary mitochondrial DNA (mtDNA) mutations for LHON in patients diagnosed as having alcohol and tobacco opt...

OBJECTIVE To evaluate changes in visual acuity (VA) over time in patients with Leber congenital amaurosis (LCA) and mutations in the CEP290 gene. METHODS Visual acuity was determined at the initial and most recent visits of 43 patients with LCA and CEP290 mutations. The main outcome measures included the best-corrected VA at the initial and most recent visits, as well as the correlation betwe...

OBJECTIVES To characterize and quantitate optic nerve histopathologic and morphometric differences between optic nerve hypoplasia (ONH) as an early and congenital form of intrinsic axonal loss and Leber hereditary optic neuropathy (LHON) as a late and acquired form of intrinsic axonal loss. MATERIALS AND METHODS Optic nerves from 3 sources were examined: a 42-year-old healthy woman (control),...

May and colleagues each reported a case of endogenous endophthalmitis in patients with gingival disease that progressed to an abscess. In the latter case, the patient also had undergone a cavity filling 7 days before onset of symptoms. Our case of endogenous endophthalmitis was in an immunocompetent individual who underwent routine dental cleaning 10 days before seeing an ophthalmologist. She d...