Objective: Previous reports of epidemics of optic neuropathy in Africa have mainly focused on eastern and central areas. Our study aimed to measure the prevalence of optic neuropathy in The Gambia, a West African country, and compare this prevalence with a simultaneously occurring epidemic of optic neuropathy, now considered endemic, in Tanzania.
Methods: The sample population, derived from the Gambian National Blindness Survey (1996), was selected using simple random sampling. Thirty-three cases of low vision/blindness were identified where optic neuropathy was the sole cause of visual loss. Within a month, 31 cases were located and these patients underwent ophthalmic and peripheral nerve assessment and completed lifestyle questionnaires.
Results: Five of the 31 individuals were found to have bilateral symmetrical optic neuropathy. Although it was not possible to fully ascertain etiology, the phenotype is compatible with epidemic, presumed nutritional, optic neuropathy described in Tanzania. Comparative prevalence data suggest a prevalence of 0.07% in The Gambia based on a total sample size of 6873 vs 2.4% in Tanzania.
Conclusion: Our data indicate that bilateral optic neuropathy is nonepidemic in The Gambia. Rare vitamin B12 and folate deficiencies reported in rural Gambians may explain the low prevalence because previous epidemics were due to nutrient deficiency. Our study is the only available estimate of epidemic optic neuropathy in The Gambia and, as such, provides an important contribution to our knowledge in identifying characteristics that may cause specific populations to be more susceptible to this public health burden.
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http://dx.doi.org/10.1097/WNO.0b013e31829b4240 | DOI Listing |
Clin Ophthalmol
December 2024
Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
Purpose: To assess the potential influence of serum biochemical factors, specifically lipid profile parameters, on visual outcomes in patients with non-arteritic anterior ischemic optic neuropathy (NAION).
Patients And Methods: All patients diagnosed with NAION at Rajavithi Hospital between 1 January 2011 and 31 December 2020 were retrospectively reviewed. The primary outcome was defined as visual recovery, measured by an improvement of at least 0.
Clin Genet
December 2024
Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, Zaragoza, Spain.
An in-depth analysis of susceptibility factors modifying the penetrance of rare Leber hereditary optic neuropathy-causing mutations in respiratory complex I genes encoded in mitochondrial deoxyribonucleic acid has not been performed. To bridge this gap, we conducted a review of the literature on rare mutations associated with LHON, selected those with substantial evidence of pathogenicity, and performed an in-depth analysis of the various pedigrees. Examining the influences that modify the penetrance of the classical mutations associated with this disease may offer insights into susceptibility factors in individuals carrying the rare mutations.
View Article and Find Full Text PDFJ Chin Med Assoc
December 2024
Department of Medical Research, Taipei Veterans General Hospital, Taipei, Taiwan, ROC.
Background: Induced pluripotent stem cell (iPSC) technology has emerged as a powerful tool for disease modeling, providing an innovative platform for investigating disease mechanisms. iPSC-derived organoids, including retinal organoids, offer patient-specific models that closely replicate in vivo cellular environments, making them ideal for studying retinal neurodegenerative diseases where retinal ganglion cells (RGCs) are impacted. N6-methyladenosine (m6A), a prevalent internal modification in eukaryotic mRNAs, plays a critical role in RNA metabolic processes such as splicing, stability, translation, and transport.
View Article and Find Full Text PDFOrphanet J Rare Dis
December 2024
Department of Neurology, The First Affiliated Hospital, Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases, National Key Clinical Department and Key Discipline of Neurology, Sun Yat-Sen University, No. 58 Zhongshan Road 2, Guangzhou, 510080, China.
Background: Neuromyelitis Optica Spectrum Disorders (NMOSD) comprise a group of autoimmune-mediated, inflammatory, demyelinating central nervous system diseases caused by aquaporin-4 (AQP4) IgG autoantibodies. Efgartigimod is a human IgG Fc fragment that reduces antibody titers by targeting the neonatal Fc receptor (FcRn). This study documents the efficacy of efgartigimod combined with intravenous methylprednisolone (IVMP) in the acute phase of NMOSD.
View Article and Find Full Text PDFCesk Slov Oftalmol
December 2024
Purpose: To analyze patients with optic disc drusen (ODD), with emphasis on modern diagnostics.
Materials And Methods: Research of the literature was conducted, together with a retrospective statistical analysis of patients with ODD. The group included individuals with ODD diagnosed using at least one of the following (ultrasound - USG, optical coherence tomography - OCT, fundus autofluorescence - FAF).
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