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Purpose: To describe progression of best-corrected visual acuity (BCVA), full-field stimulus thresholds (FST), and electroretinography (ERG) over 4 years in the -related Retinal Degeneration study and to assess their suitability as clinical trial endpoints.
Design: Prospective natural history study.
Participants: Participants (n = 105) with biallelic disease-causing sequence variants in USH2A and BCVA letter scores of ≥54 were included.
Intravitreal enzyme replacement therapy slows retinopathy in late infantile ceroid lipofuscinosis type 2.
Neuropediatrics
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 PDF[Cognitive impairment and age-related eye pathology.].
Adv Gerontol
January 2025
M.M.Krasnov Research Institute of Eye Diseases, 11 A, B, Rossolimo str., Moscow 119021, Russian Federation, e-mail:
In developed countries age-related macular degeneration (AMD) and glaucoma are the most common diseases of old age that cause irreversible blindness. Alzheimer's disease (AD), the most prevalent cause of dementia among older adults, is often associated with AMD and glaucoma. Features of AD include extracellular accumulation of β-amyloid (Aβ) and intracellular deposits of hyperphosphorylated forms of tau-protein.
View Article and Find Full Text PDFSMP30 Alleviates Oxidative Stress and Regulates Ca-ATPase Activity in UVR-B-Induced Cataracts in Rats.
Curr Eye Res
December 2024
Department of Ophthalmology, First Affiliated Hospital of Guangxi Medical University, Nanning, China.
Purpose: Oxidative stress, ultraviolet radiation, and calcium imbalance are key components in the onset and advancement of cataract, which continue to be the leading cause of blindness globally. An important newly discovered aging maker, Senescence marker protein 30 (SMP30) regulates calcium and participates in mitigating oxidative stress damage. Here, we examined the beneficial role of SMP30 in protecting against ultraviolet radiation type B (UVR-B)-induced cataract in rats.
View Article and Find Full Text PDFGlobal Trends and Projections for Avoidable Visual Impairment among Working-Age Individuals: A Population-Based Study.
Am J Ophthalmol
December 2024
From the State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangzhou, China. Electronic address:
Purpose: Visual impairment (VI) in working-age individuals significantly impacts public health and the economy. However, the avoidable causes, defined as cataract and refraction disorders, have not been extensively investigated. This study aims to quantify global trends, inequalities, and projections for avoidable VI among this demographic.
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