Bilateral progressive visual loss in an epileptic, mentally retarded boy.

Middle East African Journal of Ophthalmology
Silvana GuerrieroVittoria Petruzzella

Abstract

Leber's hereditary optic neuropathy (LHON) is a maternally inherited, monosymptomatic disorder, characterized by severe central vision loss and optic atrophy that most frequently affects young men. The classic LHON phenotype is associated to three mitochondrial DNA mutations, mostly homoplasmic, in the Mt-ND4, Mt-ND6, and Mt-ND1 genes, encoding for complex I subunits of the mitochondrial respiratory chain. Rare cases have been described in the literature in association with variable central nervous system involvement in a syndromic form called LHON 'plus.' In the present study, we report the case of a 16-year-old boy with the 3460/ND1 mutation who presented with epilepsy, migraine, and mental retardation as non-ophthalmic features. We also investigated his relatives who all had the 3460/ND1 mutation.

References

Aug 1, 1995·Journal of Neurology, Neurosurgery, and Psychiatry·E K NikoskelainenM L Savontaus
Sep 23, 2000·Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society·Y MashimaY Oguchi
May 9, 2001·American Journal of Medical Genetics·N HowellD H Harter
Feb 19, 2002·Neurochemistry International·Valerio CarelliAlfredo A Sadun
Jul 31, 2003·American Journal of Ophthalmology·Alfredo A SadunRubens Belfort
Feb 10, 2004·Progress in Retinal and Eye Research·Valerio CarelliAlfredo A Sadun

❮ Previous
Next ❯

Citations

Mar 14, 2013·Acta Neurologica Scandinavica·J Finsterer, S Zarrouk Mahjoub
Feb 7, 2012·Journal of Neuroimaging : Official Journal of the American Society of Neuroimaging·Josef Finsterer, Sinda Zarrouk Mahjoub
Mar 31, 2012·Seizure : the Journal of the British Epilepsy Association·Josef Finsterer, Sinda Zarrouk Mahjoub
Feb 24, 2017·Nature Reviews. Cardiology·Ashley K KeatesSimon Stewart

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.