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Atypical Leber Hereditary Optic Neuropathy (LHON) Associated with a Novel MT-CYB:m.15309T>C(Ile188Thr) Variant.
Genes (Basel)
January 2025
Eye Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.
The study presents a detailed examination and follow-up of a Slovenian patient with an Leber Hereditary Optic Neuropathy (LHON)-like phenotype and bilateral optic neuropathy in whom genetic analysis identified a novel variant :m.15309T>C (Ile188Thr). We provide detailed analysis of the clinical examinations of a male patient with bilateral optic neuropathy from the acute stage to 8 years of follow-up.
View Article and Find Full Text PDFThe burden of medical contraindications to corneal donation: Time for review.
PLOS Glob Public Health
December 2024
Laboratory Biology, Engineering and Imaging for Ophthalmology, Health Innovation Campus, Faculty of Medicine, University Jean Monnet, Saint-Etienne, France.
Corneal graft (keratoplasty) is the most common allograft in the world, but the imbalance between the number of donors and the number of patients waiting for transplants is abysmal on a global scale and varies enormously from one country to another. The risk of transmission of systemic diseases from donor to recipient is demonstrably low. In over 50 years and an estimated 2.
View Article and Find Full Text PDFPhenotypic and Genetic Spectrum in 309 Consecutive Pediatric Patients with Inherited Retinal Disease.
Int J Mol Sci
November 2024
Department of Ophthalmology, University Hospital, Ludwig-Maximilians-University, 80336 Munich, Germany.
Article Synopsis
- Inherited retinal dystrophies (IRDs) are a significant cause of blindness or severe visual impairment in children, with varying symptoms and genetic associations.
- The study analyzed data from 309 pediatric patients to determine the clinical and genetic profiles of IRDs, finding distinct patterns in preschoolers versus school-aged children.
- Preschoolers exhibited symptoms like nystagmus and established genetic variants linked to isolated and syndromic forms of IRDs, while school-aged children largely showed declining visual acuity and a higher prevalence of cone-dominated diseases.
Cognitive Impairment is Common and Unrecognized in Vascular Surgery Patients.
Ann Vasc Surg
February 2025
University of Florida, Department of Vascular Surgery and Endovascular Therapy, Gainesville, FL. Electronic address:
Background: Patients' capacities to understand and act upon healthcare information is crucial to decision-making and high-quality care. Cognitive impairment (CI) has been associated with adverse outcomes across a range of diseases and surgeries. Despite the importance of CI, there is little to no information on its prevalence and severity in vascular surgery patients in the United States.
View Article and Find Full Text PDFNeuro-ophthalmic outcomes after carotid intervention for ocular symptoms.
J Vasc Surg
November 2024
Department of Vascular and Endovascular Surgery, Mayo Clinic Health System, Eau Claire, WI. Electronic address:
Background: The long-term neuro-ophthalmic outcomes after carotid intervention in patients presenting with preoperative visual symptoms vary widely based on the underlying etiology of retinal ischemia and are not well understood.
Methods: We performed a retrospective review of consecutive patients presenting with retinal ischemia who subsequently underwent carotid intervention from January 2018 to December 2022. Patients were classified into three groups (group I: amaurosis fugax/vascular transient monocular vision loss, group II: ocular ischemic syndrome [OIS], and group III: central/branch retinal artery occlusion).
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