A 45-year-old woman presented with sudden complete vision loss in her left eye and retroorbital pain worsened by eye movements. A previous milder episode of vision loss had occurred in the same eye 1 year before, with complete recovery after high-dose intravenous methylprednisolone. She had no light perception in the left eye with a swollen optic disc, but with a normal right optic disc. There were no systemic manifestations or infections. MR scan of the brain showed extensive enlargement and enhancement of the left optic nerve and optic chiasm. After excluding infections and autoimmune markers, a left optic nerve biopsy confirmed non-caseating granulomas, leading to a diagnosis of neurosarcoidosis.
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http://dx.doi.org/10.1136/pn-2023-003939 | DOI Listing |
BMC Neurol
January 2025
Faculty of Medicine, Department of Neurology, Al-Quds University, Jerusalem, Palestine.
Background: Vanishing white matter disease (VWMD) is a rare autosomal recessive leukoencephalopathy. It is typified by a gradual loss of white matter in the brain and spinal cord, which results in impairments in vision and hearing, cerebellar ataxia, muscular weakness, stiffness, seizures, and dysarthria cogitative decline. Many reports involve minors.
View Article and Find Full Text PDFBMJ Case Rep
January 2025
Department of Ophthalmology, Rochdale Infirmary, Rochdale, UK.
Sweet syndrome (SS), or acute febrile neutrophilic dermatosis, is a dermatologic, auto-inflammatory disorder of unclear origin, often accompanied by systemic inflammation affecting various tissues, including the eyes. Common ocular manifestations include conjunctivitis but can extend to other ocular tissues. Orbital apex syndrome (OAS) involves damage to several cranial nerves transversing the orbital apex, leading to ophthalmoplegia and vision loss.
View Article and Find Full Text PDFStem Cell Res
December 2024
Department of Integrative Pathophysiology and Therapies, Andalusian Molecular Biology and Regenerative Medicine Centre (CABIMER), Junta de Andalucía, CSIC, Universidad de Sevilla, Universidad Pablo de Olavide, Avda. Américo Vespucio 24, 41092 Seville, Spain.
Mutations in the PRPF31 gene are a well-known cause of autosomal dominant retinitis pigmentosa (RP), the most prevalent genetic form of blindness in adults, affecting 1 in 4,000 individuals globally. In this study, peripheral blood mononuclear cells from a patient carrying a heterozygous mutation in PRPF31 were reprogrammed to generate the human iPSC line ESi132-A. This cell line was thoroughly characterized for self-renewal and pluripotency.
View Article and Find Full Text PDFAm J Hematol
January 2025
Byers Eye Institute at Stanford University School of Medicine, Watson, Palo Alto, California, US.
Biomed Tech (Berl)
January 2025
Department of Computer Science, 72937 Centre for Machine Learning and Intelligence (CMLI), Avinashilingam Institute for Home Science and Higher Education for Women, Coimbatore, India.
Objectives: Diabetic retinopathy (DR) is associated with long-term diabetes and is a leading cause of blindness if it is not diagnosed early. The rapid growth of deep learning eases the clinicians' DR diagnosing procedure. It automatically extracts the features and performs the grading.
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