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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0151010 | PLOS |
J Clin Med
December 2024
Department of Ophthalmology, Medical University of Warsaw, Sierakowskiego 13, 01-756 Warsaw, Poland.
To evaluate visual acuity improvement and identify contributing factors in patients with severe keratitis affecting both virgin and transplanted corneas, treated at a hospital. A retrospective analysis was conducted on 497 patients with unilateral corneal ulcers treated at a tertiary referral center between 2008 and 2023. Data included distance (BCVA) and near best-corrected visual acuity at initial presentation and at discharge, treatments before hospital admission, demographic details, risk factors, clinical signs and symptoms, ancillary test results, and management strategies.
View Article and Find Full Text PDFCan J Ophthalmol
January 2025
Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Objective: Biallelic RPE65 pathogenic variants may cause Leber congenital amaurosis (LCA). Voretigene neparvovec-rzyl (VN, Luxturna) is the only approved subretinal gene therapy that demonstrated benefit and safety. The eligibility criteria are vague and variable between centres.
View Article and Find Full Text PDFStargardt disease is a currently untreatable, inherited neurodegenerative disease that leads to macular degeneration and blindness due to loss-of-function mutations in the ABCA4 gene. We have designed a dual adeno-associated viral vector encoding a split-intein adenine base editor to correct the most common mutation in ABCA4 (c.5882G>A, p.
View Article and Find Full Text PDFNeuropediatrics
January 2025
Department of Inborn Errors of Metabolism, Ludwig-Maximilians-University Munich, University Hospital, Munich, Germany.
Ceroid lipofuscinosis type 2 (CLN2) is caused by biallelic pathogenic variants in the TPP1 gene, encoding lysosomal tripeptidyl peptidase 1 (TPP1). The classical late-infantile phenotype has an age of onset between 2 and 4 years and is characterized by psychomotor regression, myoclonus, ataxia, blindness, and shortened life expectancy. Vision loss occurs due to retinal degeneration, usually when severe neurological symptoms are already evident.
View Article and Find Full Text PDFEye (Lond)
January 2025
Division of Experimental Retinal Therapies, Department of Clinical Sciences, University of Pennsylvania, School of Veterinary Medicine, Philadelphia, PA, 19104, USA.
In this review, we summarize the findings of several pre-clinical studies in the canine BEST1 disease model. To this end, client-owned and purpose bred dogs that were compound heterozygotes or homozygotes, respectively, for two or one of 3 different mutations in BEST1 were evaluated by ophthalmic examination, cSLO/sdOCT imaging, and retinal immunohistochemistry to characterize the clinical and microanatomic features of the disease. Subsequently AAV-mediated gene therapy was done to transfer the BEST1 transgene to the RPE under control of a hVMD2 promoter.
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