Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4775056PMC
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0151010PLOS

Publication Analysis

Top Keywords

correction blindness
4
blindness glaucoma
4
glaucoma multicenter
4
multicenter data
4
data review
4
review academic
4
academic eye
4
eye clinics
4
correction
1
glaucoma
1

Similar Publications

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 PDF

"Blindness" is not a contraindication for voretigene neparvovec-rzyl treatment-a review of 9 cases.

Can 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 PDF

Stargardt 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 PDF

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 PDF

Canine Best disease as a translational model.

Eye (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.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!