Objective: Optic atrophy is a pathological term applied to optic nerve shrinkage from any process that produces degeneration of axons in the anterior visual system (the retino-geniculate pathway). The pathologist can make the diagnosis of optic atrophy by direct observation of the histopathological changes in the optic nerve. The clinician is restricted to indirect evidence by observing the optic nerve as it enters the eye and through testing its function.
Methods: Fifty patients with bilateral or unilateral optic atrophy, were collected randomly from several teaching hospitals in Baghdad, Iraq, between August 1998 and June 1999. Those patients included in this study had ophthalmoscopic abnormalities of the optic disc in addition to defective visual function that could be localized to the optic nerve.
Results: The defects in visual function varied between patients according to the disease process and duration of illness. Eight-seven percent of patients had visual acuity impairment, 74.4% had visual field defect, 58.5% had impairment in color perception, 64% had defective pupillary response to light and 88.4% had prolonged visual evoked potential (VEP) responses.
Conclusion: Patients who met the criteria for optic atrophy have different and unequal changes in optic nerve functions, ranging from 58.5% for color saturation test to 88.4% for VEP. Forty percent of patients with optic atrophy were discovered accidentally.
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Wolfram syndrome is an extremely rare condition composed of a tetrad of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. When concurrently presenting with another condition, such as tuberculous meningitis, the widespread range of resulting symptoms delays the establishment of diagnosis and treatment, which results in increased patient morbidity.
View Article and Find Full Text PDFSci Transl Med
January 2025
Department of Medicine 1, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU) and Universitätsklinikum Erlangen, 91052 Erlangen, Germany.
Dysregulation at the intestinal epithelial barrier is a driver of inflammatory bowel disease (IBD). However, the molecular mechanisms of barrier failure are not well understood. Here, we demonstrate dysregulated mitochondrial fusion in intestinal epithelial cells (IECs) of patients with IBD and show that impaired fusion is sufficient to drive chronic intestinal inflammation.
View Article and Find Full Text PDFAm J Ophthalmol Case Rep
March 2025
Department of Ophthalmology, Edward S. Harkness Eye Institute, Columbia University Irving Medical Center, New York Presbyterian Hospital, New York, NY, USA.
Purpose: We present a case of Kikuchi-Fujimoto Disease (KFD) associated with bilateral optic neuropathy progressing to vision loss.
Observations: A 17-year-old male was referred for bilateral optic nerve pallor. Eight years prior, he was diagnosed with KFD after workup for lymphadenopathy and treated with prednisolone acutely followed by long-term Plaquenil.
Orphanet J Rare Dis
January 2025
Ophthalmology Department, Centro Hospitalar e Universitário de Coimbra (CHUC), Hospitais da Universidade de Coimbra (HUC), ULS Coimbra, Praceta Prof. Mota Pinto, 3000-075, Coimbra, Portugal.
Background: Syndromic genetic disorders affecting vision can also cause hearing loss, and Usher syndrome is by far the most common etiology. However, many other conditions can present dual sensory impairment. Accurate diagnosis is essential for providing patients with genetic counseling, prognostic information, and appropriate resources.
View Article and Find Full Text PDFJ Neuroophthalmol
November 2024
Ophthalmology Department (AC-C, MF-R, SA-A, RA, BS-D), Seu Maternitat, Hospital Clínic de Barcelona, Universitat de Barcelona, Barcelona, Spain; Faculty of Medicine and Health Sciences (AC-C, SA-A, BS-D), Universitat de Barcelona, Barcelona, Spain; Fundació Per La Recerca Biomèdica-IDIBAPS (MF-R, SA-A, BS-D), Barcelona, Spain; and Ophthalmology Department (MS-G), Consorci Mar Parc de Salut de Barcelona, Barcelona, Spain.
Background: Autosomal Dominant Optic Atrophy (ADOA) is a hereditary optic neuropathy characterized by retinal ganglion cell degeneration and optic nerve fiber loss. This study examined the correlation between clinical and structural parameters in patients with ADOA using optical coherence tomography (OCT) and explored potential clinical biomarkers.
Methods: A cross-sectional, case-control observational study included 27 patients with ADOA and 27 age- and sex-matched healthy controls.
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