Optic neuropathies constitute a group of conditions with various etiologies and might be caused by different factors; we can distinguish the genetic and acquired causes of optic neuropathies. Even though the symptoms are not highly specific, this condition is primarily characterized by unilateral or bilateral vision loss with worsening color detection. The loss may be acute or gradual depending on the causation. In this article, we included a specification of toxic optic neuropathy (TON) mainly triggered by alcohol abuse and also the usage of other substances, including drugs or methanol, as well as intoxication by metals, organic solvents, or carbon dioxide. Nutritional deficiencies, vitamin absorption disorder, and anemia, which usually appear during excessive alcohol intake, and their effect on the etiology of the optic neuropathy have been likewise discussed.
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http://dx.doi.org/10.3390/ijerph19053092 | DOI Listing |
Med J Malaysia
January 2025
Department of Ophthalmology, Saveetha Institute of Medical and Technical Sciences (Deemed to be University): SIMATS Deemed University, Chennai, Tamilnadu, India.
Tamoxifen, an oral medication that blocks estrogen activity, is frequently prescribed for the treatment of advanced breast cancer and as an additional therapy following surgical removal of early stage disease. A 45-year-old female with a history of breast carcinoma treated with tamoxifen presented with sudden onset bilateral visual impairment for 4 days. On ocular examination, the patient exhibited optic disc edema with hyperemia and bilateral anterior pathway defects in visual evoked potentials.
View Article and Find Full Text PDFInt J Mol Sci
December 2024
Department of Translational Neuroscience, Barrow Neurological Institute, St Joseph's Hospital and Medical Center (SJHMC), Phoenix, AZ 85013, USA.
Traumatic optic neuropathy (TON) has been regarded a vision-threatening condition caused by either ocular or blunt/penetrating head trauma, which is characterized by direct or indirect TON. Injury happens during sports, vehicle accidents and mainly in military war and combat exposure. Earlier, we have demonstrated that remote ischemic post-conditioning (RIC) therapy is protective in TON, and here we report that AMPKα1 activation is crucial.
View Article and Find Full Text PDFLife (Basel)
December 2024
Department of Ophthalmology, Unicaen, University Hospital of Caen, 14033 Caen, France.
Neuro-ophthalmological changes have been reported after prolonged exposure to microgravity; however, the pathophysiology remains unclear. Furthermore, several countermeasures have been suggested to counteract the side effects of microgravity. The objectives of the present study were twofold: (1) to assess the neuro-ophthalmological impact of 60 days of head-down bed rest (HDBR) and (2) to determine the potential effects of an antioxidant cocktail.
View Article and Find Full Text PDFAMPylation is a post-translational modification involving the transfer of adenosine monophosphate (AMP) from adenosine triphosphate (ATP) to target proteins, serving as a critical regulatory mechanism in cellular functions. This study aimed to expand the phenotypic spectrum associated with mutations in the FICD gene, which encodes an adenyltransferase enzyme involved in both AMPylation and deAMPylation. A clinical evaluation was conducted on a patient presenting with a complex clinical profile.
View Article and Find Full Text PDFGenes (Basel)
December 2024
Department of Clinical Genetics, Medical University of Lodz, Pomorska Str. 251, 92-213 Lodz, Poland.
-spectrum disorders are caused by a mutation in the gene. The term includes a wide range of rare disorders, from the most severe Wolfram syndrome with autosomal recessive inheritance to milder clinical manifestations with a single causative variant in the gene, such as Wolfram-like syndrome, low-frequency sensorineural hearing loss (LFSNHL), isolated diabetes mellitus (DM), nonsyndromic optic atrophy (OA), and isolated congenital cataracts. The aim of this study was to evaluate genotype-phenotype correlations in Polish patients with -spectrum disorders.
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